(used for variant description)
(last modified November 19, 2018)
This file was created to facilitate the description of sequence variants on transcript NM_058172.5 in the ANTXR2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_015987.1, covering ANTXR2 transcript NM_058172.5.
(upstream sequence)
. . . . g.5043
agtcatcttcaactcggcaggaacccacaagtgtgcatgtgtg c.-721
. . . . . . g.5103
gctcggaggcttcagctggggccccgccctcgtccccaggcgcacactgacacacgcagc c.-661
. . . . . . g.5163
ccagacccggcccgagcgggctcctgccctcggcgtggcttctctccagccgggagtccc c.-601
. . . . . . g.5223
agggccagctagcctcctcccctaaaggggacggcctgtcagcgcagtgccagagtccag c.-541
. . . . . . g.5283
caccgggaggaaagtttcggagtgcggagggagttggggccgccggaggagaagagtctc c.-481
. . . . . . g.5343
cactcctagtttgttctgccgtcgccgcgtcccagggaccccttgtcccgaagcgcacgg c.-421
. . . . . . g.5403
cagcgggggggacttcagccctccaggcggggtgggttccaggtccgggtccgaggcggg c.-361
. . . . . . g.5463
cgctggaggctcggccccaggccggagaggaactcctttcgcgagctgtcgccgtgggcc c.-301
. . . . . . g.5523
cgcattgtctgcaggaactctccggaatcgggagggggaggactggatcgcgcttccact c.-241
. . . . . . g.5583
gggattcgtcaagagttccggcggcagctgcggcggtggcggagactccctttgtcctct c.-181
. . . . . . g.5643
caggacctccctctctccctccctgtcagctggtgggtcccgctgccgcaggcgccggcg c.-121
. . . . . . g.5703
tctcagctgctcgccgccccccaccccagagtgcgtgccgggtgactcccgccacctttg c.-61
. . . . . . g.5763
cgaccctcctgagcttaggggactgcgagcgggagggagtctcaggcccccggccgcagg c.-1
. . . . . . g.5823
ATGGTGGCGGAGCGGTCCCCGGCCCGCAGCCCCGGGAGCTGGCTGTTCCCCGGGCTGTGG c.60
M V A E R S P A R S P G S W L F P G L W p.20
. . . . . . g.5883
CTGTTGGTGCTCAGCGGTCCCGGGGGGCTGCTGCGCGCCCAGGAGCAGCCCTCCTGCAGA c.120
L L V L S G P G G L L R A Q E Q P S C R p.40
. . . | 02 . . . g.6697
AGAGCCTTTGATCTCTACTTCGTCCTGGACAA | GTCTGGGAGTGTGGCAAATAACTGGATT c.180
R A F D L Y F V L D K | S G S V A N N W I p.60
. . . . | 03 . . g.8832
GAAATTTATAATTTCGTACAGCAACTTGCGGAGAGATTTGTGAG | CCCTGAAATGAGATTA c.240
E I Y N F V Q Q L A E R F V S | P E M R L p.80
. . . . . | 04 . g.22314
TCTTTCATTGTGTTTTCTTCTCAAGCAACTATTATTTTGCCATTAACTGGAGACAG | AGGC c.300
S F I V F S S Q A T I I L P L T G D R | G p.100
. . . . . . g.22374
AAAATCAGTAAAGGCTTGGAGGATTTAAAACGTGTTAGTCCAGTAGGAGAGACATATATC c.360
K I S K G L E D L K R V S P V G E T Y I p.120
. | 05 . . . . g.22898
CATGAAGGACTAAAGCTA | GCGAATGAACAAATTCAGAAAGCAGGAGGCTTGAAAACCTCC c.420
H E G L K L | A N E Q I Q K A G G L K T S p.140
. . . . . . g.22958
AGTATCATAATTGCTCTGACAGATGGCAAGTTGGACGGTCTGGTGCCATCATATGCAGAG c.480
S I I I A L T D G K L D G L V P S Y A E p.160
| 06 . . . . . . g.23159
AAAGAG | GCAAAGATATCCAGGTCACTTGGGGCTAGTGTTTATTGTGTTGGTGTCCTTGAT c.540
K E | A K I S R S L G A S V Y C V G V L D p.180
. | 07 . . . . . g.24016
TTTGAACAAGCACAG | CTTGAAAGAATTGCTGATTCCAAGGAGCAAGTTTTCCCTGTCAAA c.600
F E Q A Q | L E R I A D S K E Q V F P V K p.200
. . . | 08 . . . g.42315
GGTGGATTTCAGGCTCTTAAAGGAATAATTAATTCT | ATACTAGCTCAGTCATGTACTGAA c.660
G G F Q A L K G I I N S | I L A Q S C T E p.220
. . . | 09. . . g.44776
ATCCTAGAATTGCAGCCCTCAAGTGTCTGTGTGGGGG | AGGAATTTCAGATTGTCTTAAGT c.720
I L E L Q P S S V C V G E | E F Q I V L S p.240
. . . . . . g.44836
GGAAGAGGATTCATGCTGGGCAGTCGGAATGGCAGTGTTCTCTGCACTTACACTGTAAAT c.780
G R G F M L G S R N G S V L C T Y T V N p.260
. | 10 . . . . . g.46675
GAAACATATACAACGA | GTGTAAAACCAGTAAGTGTACAGCTTAATTCTATGCTTTGTCCT c.840
E T Y T T S | V K P V S V Q L N S M L C P p.280
. . | 11 . . . . g.59381
GCACCTATCCTGAATAAAGCTGGAGA | AACTCTTGATGTTTCAGTGAGCTTTAATGGAGGA c.900
A P I L N K A G E | T L D V S V S F N G G p.300
. . . . | 12 . . g.69722
AAATCTGTCATTTCAGGATCATTAATTGTCACAGCCACAGAATGT | TCTAACGGGATCGCA c.960
K S V I S G S L I V T A T E C | S N G I A p.320
. . . . . . g.69782
GCCATCATTGTTATTTTGGTGTTACTGCTACTCCTGGGGATCGGTTTGATGTGGTGGTTT c.1020
A I I V I L V L L L L L G I G L M W W F p.340
. . | 13 . . . . g.93499
TGGCCCCTTTGCTGCAAAGTG | GTTATTAAGGATCCTCCACCACCACCCGCCCCTGCACCA c.1080
W P L C C K V | V I K D P P P P P A P A P p.360
| 14 . . . . . . g.94407
AAAGAG | GAGGAAGAAGAACCTTTGCCTACTAAAAAGTGGCCAACTGTGGATGCTTCCTAT c.1140
K E | E E E E P L P T K K W P T V D A S Y p.380
. . . | 15 . . g.100170
TATGGTGGTCGAGGGGTTGGAGGAATTAAAAGAATGGAG | GTTCGTTGGGGTGATAAAGGA c.1200
Y G G R G V G G I K R M E | V R W G D K G p.400
. . . . . . g.100230
TCTACTGAGGAAGGTGCAAGGCTAGAGAAAGCCAAAAATGCTGTGGTGAAGATTCCTGAA c.1260
S T E E G A R L E K A K N A V V K I P E p.420
. . . . . . g.100290
GAAACAGAGGAACCCATCAGGCCTAGACCACCTCGACCCAAACCCACACACCAGCCTCCT c.1320
E T E E P I R P R P P R P K P T H Q P P p.440
. . | 16. . . . g.100655
CAGACAAAATGGTACACCCCAATTAAG | GGTCGTCTTGATGCTCTCTGGGCTTTGTTGAGG c.1380
Q T K W Y T P I K | G R L D A L W A L L R p.460
. . . . | 17 . g.170868
CGGCAGTATGACCGGGTTTCTTTGATGCGACCTCAGGAAGGAGATGAG | GGCCGGTGCATA c.1440
R Q Y D R V S L M R P Q E G D E | G R C I p.480
. . g.170895
AACTTCTCCCGAGTTCCATCTCAGTAA c.1467
N F S R V P S Q X p.488
. . . . . . g.170955
aagggaagcaggaagaccaagaaggtacgaagatggcacattttcacatagctgattttc c.*60
. . . . . . g.171015
aaccaaatgaaaaaaatcaagtgcatttcagaagcttttggaagagcagcttaattcctc c.*120
. . . . . . g.171075
tcagtcgggaaatgttttctctgccttctgctttgcttgcaccaaacatttctaaacact c.*180
. . . . . . g.171135
tgttctgccatctacatgggaggtgatgaaactcagtggtaactcatgatttatgacatt c.*240
. . . . . . g.171195
gaaaataaagaggaacattgacctgcagactatggtttgtacaagaaagtttgtttgaat c.*300
. . . . . . g.171255
gtgtagaagaggaaaaagcaacaacagcaacaacacgaagatgataccaaaacaaggacc c.*360
. . . . . . g.171315
acaaaacaactagccatgatgggagacaggagttttttacatggaaacatggcacttgtg c.*420
. . . . . . g.171375
tttttatgtggcaagatctttatccataggcagagtatgaaatttcccaccaggctaagc c.*480
. . . . . . g.171435
aaataaagaagtccattgccttatagctatgtcagatcacagaatccttccaagtgctct c.*540
. . . . . . g.171495
atcacagtgtgccttatgggaagtttctgactggaaaatcttgtcattctaacactgaaa c.*600
. . . . . . g.171555
agtgcacacgcatgacaaaatgtagacaagatgcctcaaggtattggtagcaagcaagat c.*660
. . . . . . g.171615
tttgccctttagttttcgaagacacctttctttcattatgcactcgggacaagaaaatta c.*720
. . . . . . g.171675
atagagcgttattccacagaaggcctctagccagagatcttgagtgtagtgcaagggact c.*780
. . . . . . g.171735
cattttttgcgaacttgtccctgtgactagtagattcccccttttcctgtgtttaggatt c.*840
. . . . . . g.171795
tagtagtgcataaagcattaatatccataaacatacctagaagtttgttttgcttttaat c.*900
. . . . . . g.171855
ttaaaggaagcagtaaccacaaagcttccgctcagggttttttctttcttcaagtctcca c.*960
. . . . . . g.171915
agggctcttcagcgtcacaagccagcaactctctttgcattaaaatttcaaagtttaatt c.*1020
. . . . . . g.171975
aatataattaaaagcaacagcaagcagcagcctgtgaagattttgctcatcttttttatg c.*1080
. . . . . . g.172035
ccttttgacattgaatgacctattactgtatgcgcattacttggattttgaggggcactc c.*1140
. . . . . . g.172095
taccttggttatgattcagtagaggaaaaagaccacctttcttcaatttacaaattaaat c.*1200
. . . . . . g.172155
cttctggagggtcgctatcacaaaacattgacgatgtatgtattataattttttagaaaa c.*1260
. . . . . . g.172215
accaccatcgtgtcacgtcgacgatgccaaattatgttagcgtgagcagaaacaccgtgg c.*1320
. . . . . . g.172275
gggaggaaggcagcagctgaagaaaaaagctcaaatgatctagtcactttcgatactgta c.*1380
. . . . . . g.172335
cttcagatgcgaaatggatattcgagtggaaacctgacaaagtgcgcctgctttgatgtg c.*1440
. . . . . . g.172395
aactggtatagacaatgaccagtggctgggtcagtgggatgtctctctgtgagcacaaag c.*1500
. . . . . . g.172455
gcttatcaaatgacactaaaaataagttcaacaaccatcacattggaagggagaaggcga c.*1560
. . . . . . g.172515
acatttcatgtttggcgggcatgtgagtgcacaagatggaaagagcgattggagcatcct c.*1620
. . . . . . g.172575
ggtataattacccccattgtgctcttaatggaaatttcaaaggacgggagtattctgttg c.*1680
. . . . . . g.172635
gttggtgtccaggtttgtggcactgttccaagaggccttacacacacacacaaatatata c.*1740
. . . . . . g.172695
attttctatacatatatatcctctagcttgaaacttttgctcaagtttatttatgtcact c.*1800
. . . . . . g.172755
ggctggctggatccaaagtcatgtgtccacacattcataaataaaaattttacctatgcc c.*1860
. . . . . . g.172815
tgtgctaccatttctttaagcccacataaagctaatgccttcttgggttgaatatgcagt c.*1920
. . . . . . g.172875
tgttatgcttagtttcagggatggaattctattcagttccaaaatgtccctcatgttcac c.*1980
. . . . . . g.172935
agatgatactattggcagtagctgcatatgcaagtgtaacttggaagcctgatatagtat c.*2040
. . . . . . g.172995
acccaaccctttctgcaatgagttattgtatccctttgttctgcatttgcatctggaaca c.*2100
. . . . . . g.173055
agacctaatgtggcttccttaaatgggcacttcatttctgatgagtgcacaccaattatt c.*2160
. . . . . . g.173115
gctattttaatatcattgagaatactacagaagctaaggctatgtttctttggtaactac c.*2220
. . . . . . g.173175
ttcaaatttctctagaattatgtagcatacttacattttgctgcatgaacaatgaaaatt c.*2280
. . . . . . g.173235
aacctctgcctttaaatggaaaaataactttctgtagattgttatacagctactatgaag c.*2340
. . . . . . g.173295
agctcttaatgaagaggaagtggcagtggtctatatgtagactgaaaaaatatcattaat c.*2400
. . . . . . g.173355
aaagttcaaagactgatggaatttcattgcccttaaagatatgaaccagatctgttttat c.*2460
. . . . . . g.173415
gcttttctccaattatactaactagcagttgaaaagaatttgttttgaagagtgttattt c.*2520
. . . . . . g.173475
tcttaccaaaagaccagatcaaaaatccctatacttttccaccaaaaaaagattaaaatg c.*2580
. . . . . . g.173535
aagccatttctataaatttaatggcactttatattttatatagagaaatagcttctgttt c.*2640
. . . . . . g.173595
gattttctggacaccatgtcagtcaagatctactttctgtgtaaaaatgaataagtcttg c.*2700
. . . . . . g.173655
cacataatccattcgtgttgcataaggttgcaaaaacaattaagtgggaaatgactccta c.*2760
. . . . . . g.173715
acttatgtgtctactctgcctagaaagaaagttttgaaggcatctatatatatttcataa c.*2820
. . . . . . g.173775
caatgtctgttctttatggatttgatccataaatatttatctatctgaaaactttgatac c.*2880
. . . . . . g.173835
ttggaatgttttccttagagcatttggtgctccaagaaaaaacatttggtgctaagagtt c.*2940
. . . . . . g.173895
gcagcactgatgcctttccctaagttaattctattttaaaaatttatatttccttcccaa c.*3000
. . . . . . g.173955
tgagatgcagagtaaaatttgagaccctccattgactagggagcagcatctgtcatctat c.*3060
. . . . . . g.174015
ggttaattactattttgacaaaaatatagaaggtttaaacccccatgtatttcagattgt c.*3120
. . . . . . g.174075
tagagaaagaagtagtttgcttatatttcccttgaactttattctaaccatttaaataat c.*3180
. . . . . . g.174135
aaattattcaatatttgttataataaatccttactagatacaagatttgggtgtttctgt c.*3240
. . . . . . g.174195
gaagttaactttattatctaaatatcactaaccattgtttactgctcagaggcagataca c.*3300
. . . . . . g.174255
tttgtttagtttaaagttgaaacaaattctatattgtggataattaggtgtttaaaacat c.*3360
. . . . . . g.174315
tttgatagaccagcttatatatgttatttttgaaatttaagaaggcagaatgtaattagg c.*3420
. . . . . . g.174375
tcacatttacaagtagaaggaattataacttcctactccatgcatatattgtatattggt c.*3480
. . . . . . g.174435
tagcttttactagcattttctagcatcacattactttagaaagtttttgagagtttcatt c.*3540
. . . . . . g.174495
actactggaaaagtttggtgggtatatgtacacaggaaagaaatatatgcatcatttcaa c.*3600
. . . . . . g.174555
tatgaaaggaaatacataatctagaaacatagaataactcttggtacatctgttacatag c.*3660
. . . . . . g.174615
ttaaggaaagaaacaggcaggtgaggctggagaatgttgtctatttgtaggaaataaagt c.*3720
. . . . . . g.174675
cagtgcagacgcatattctagtttagagttagattaatattgtgcttagtgaatttctat c.*3780
. . . . . . g.174735
gacatatttctgagaacactttaatatatttccacacctactggaatctaattcagtcga c.*3840
. . . . . . g.174795
tcggataaaagaaagacttttttgttgttgtttttgaaaatccataatgtagcaggttct c.*3900
. . . . . . g.174855
gcgctggttttttaatgtattttatttttgtgctctcctgccaaaagaaaaggctgataa c.*3960
. . . . . . g.174915
gtaagtacacagtacaacatgtaaatttgtataaaaatatgcttgtttagattgctctac c.*4020
. . . . . . g.174975
aataactatattaaggtaaattgtgtgtgtgtgtgtgagagagagagagagagagagaaa c.*4080
. . . . . . g.175035
cagagggagaattgactcaatgtgttttctatgaagagtcttagcttaggaatcaggtaa c.*4140
. . . . . . g.175095
cagagaggtcctagaccatagacccagccatcaactagcttgctgatgttgaacagatca c.*4200
. . . . . . g.175155
actctcaaccatagactgaagatggaatgaagatatcaaaagttccttttagcactgact c.*4260
. . . . . . g.175215
agattttttttcttttttttgaaacagagtctcactctgtcacccaggctggagttcaat c.*4320
. . . . . . g.175275
ggcatggtctgggctgactgtaacctcctcttcctgggttcaagtgattctcatccctca c.*4380
. . . . . . g.175335
gcctcctgagtagctgggattacaggcacataacaccacacccagctaactcttgtattt c.*4440
. . . . . . g.175395
ttgtagaaatggggtttcgctatgttgctcagactggtctcaaacacctggcctcaagtg c.*4500
. . . . . . g.175455
atcctcctgcctcagtctcccaaatgctgtgattacaggcacaagctactgcaccaggcc c.*4560
. . . . . . g.175515
tctgactacatttctattaatatggttaggttggaggttttagtatttttgtatctcata c.*4620
. . . . . . g.175575
tttgtatcaatatgactggcttctttgtctgtagtgtgtggtaatattagttctgtaaac c.*4680
. . . . . . g.175635
tgtcagttgcaaaaaaaaaaaataccttgaactatagtatatgttgataattagccataa c.*4740
. . . . . . g.175695
taatttcttagttaatttcttataattaaatttgtcaaagaggaaacttacagtttatat c.*4800
. . . . . . g.175755
ctgatgaaatctctaaaaagatgggtaaaacattgggaaatgtatgcatgtacttcactc c.*4860
. . . . . . g.175815
tggtttcatagggttagcaagtgtcttaaaaacatatataaagaagcacagagattgtta c.*4920
. . . . . . g.175875
ggagatatttatgctcccagttttaataattgggatactttgtataccacagaaagaaaa c.*4980
. . . . . . g.175935
attactaaactcctctttttttagtcaaaattggaaaaaaagtcttaattgacagttact c.*5040
. . . . . . g.175995
atgcctgtgctacccatagcaagtattcagtggaaaatactttactaagtaagtaatttg c.*5100
. . . . . . g.176055
aacacagcttaaaatccatagtatgttacaattgctagcctttcacaaagtttgcattgt c.*5160
. . . . . . g.176115
cttaatgtagaaggatactgtgatctaagaattcacaattttaaaaagtggaacctaaat c.*5220
. . . . . . g.176175
agggtttcctaattgccatgaagttatttgtatcttagatgaattatatttacaacattg c.*5280
. . . . . . g.176235
taaatgtcagtgggtgatccaaaataaattgttaaagttattaaaatgtacatttaagta c.*5340
. . . . . . g.176295
ggtttcagtttgactagaaataattggcaagaaggcaagaactagtcttctagagcaggg c.*5400
. . . . . . g.176355
atcccatcccccaggtcatggactggtactggtccatggcctgttagaaaccaggccaca c.*5460
. . . . . . g.176415
cagcaggagatgagtggaaagcaagtgaaacttcatgggtatttacagcaattccccgtc c.*5520
. . . . . . g.176475
gctcgcattaccacctgagctgtgtctcctgtgagatcagcagcagcattagattctcaa c.*5580
. . . . . . g.176535
ggagcacaaacccttttggaactgtgtgtgagggatctaagttgcgcatttcttatgaga c.*5640
. . . . . . g.176595
atctaatacctgatgatctgttgttgtctcccaccacccccagatgggaccatctagttg c.*5700
. . . . . . g.176655
caggaaaacaagctcaggctcccactgattctacattatagtgagttgtgtaattatttc c.*5760
. . . . . g.176707
attatatataacaatgtaataataatagaaataaagtacataataaatgtaa c.*5812
(downstream sequence)
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