(used for variant description)
(last modified March 21, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_001118887.1 in the ANGPT2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000008.10, covering ANGPT2 transcript NM_001118887.1.
(upstream sequence)
. . g.5029
aaagtgattgattcggatactgacactgt c.-301
. . . . . . g.5089
aggatctggggagagaggaacaaaggaccgtgaaagctgctctgtaaaagctgacacagc c.-241
. . . . . . g.5149
cctcccaagtgagcaggactgttcttcccactgcaatctgacagtttactgcatgcctgg c.-181
. . . . . . g.5209
agagaacacagcagtaaaaaccaggtttgctactggaaaaagaggaaagagaagactttc c.-121
. . . . . . g.5269
attgacggacccagccatggcagcgtagcagccctgcgttttagacggcagcagctcggg c.-61
. . . . . . g.5329
actctggacgtgtgtttgccctcaagtttgctaagctgctggtttattactgaagaaaga c.-1
. . . . . . g.5389
ATGTGGCAGATTGTTTTCTTTACTCTGAGCTGTGATCTTGTCTTGGCCGCAGCCTATAAC c.60
M W Q I V F F T L S C D L V L A A A Y N p.20
. . . . . . g.5449
AACTTTCGGAAGAGCATGGACAGCATAGGAAAGAAGCAATATCAGGTCCAGCATGGGTCC c.120
N F R K S M D S I G K K Q Y Q V Q H G S p.40
. . . . . . g.5509
TGCAGCTACACTTTCCTCCTGCCAGAGATGGACAACTGCCGCTCTTCCTCCAGCCCCTAC c.180
C S Y T F L L P E M D N C R S S S S P Y p.60
. . . . . . g.5569
GTGTCCAATGCTGTGCAGAGGGACGCGCCGCTCGAATACGATGACTCGGTGCAGAGGCTG c.240
V S N A V Q R D A P L E Y D D S V Q R L p.80
. . . . | 02 . g.35788
CAAGTGCTGGAGAACATCATGGAAAACAACACTCAGTGGCTAATGAAG | CTTGAGAATTAT c.300
Q V L E N I M E N N T Q W L M K | L E N Y p.100
. . . . . . g.35848
ATCCAGGACAACATGAAGAAAGAAATGGTAGAGATACAGCAGAATGCAGTACAGAACCAG c.360
I Q D N M K K E M V E I Q Q N A V Q N Q p.120
. . . . . . g.35908
ACGGCTGTGATGATAGAAATAGGGACAAACCTGTTGAACCAAACAGCGGAGCAAACGCGG c.420
T A V M I E I G T N L L N Q T A E Q T R p.140
. . | 03 . . . . g.40623
AAGTTAACTGATGTGGAAGCCCAA | GTATTAAATCAGACCACGAGACTTGAACTTCAGCTC c.480
K L T D V E A Q | V L N Q T T R L E L Q L p.160
. . . . . . g.40683
TTGGAACACTCCCTCTCGACAAACAAATTGGAAAAACAGATTTTGGACCAGACCAGTGAA c.540
L E H S L S T N K L E K Q I L D Q T S E p.180
. . | 04 . . . . g.46887
ATAAACAAATTGCAAGATAAGAACAG | TTTCCTAGAAAAGAAGGTGCTAGCTATGGAAGAC c.600
I N K L Q D K N S | F L E K K V L A M E D p.200
. . . . . . g.46947
AAGCACATCATCCAACTACAGTCAATAAAAGAAGAGAAAGATCAGCTACAGGTGTTAGTA c.660
K H I I Q L Q S I K E E K D Q L Q V L V p.220
. . . . . . g.47007
TCCAAGCAAAATTCCATCATTGAAGAACTAGAAAAAAAAATAGTGACTGCCACGGTGAAT c.720
S K Q N S I I E E L E K K I V T A T V N p.240
. . . . . . g.47067
AATTCAGTTCTTCAGAAGCAGCAACATGATCTCATGGAGACAGTTAATAACTTACTGACT c.780
N S V L Q K Q Q H D L M E T V N N L L T p.260
. | 05 . . . . g.48313
ATGATGTCCACATCAAACT | CTAAGGACCCCACTGTTGCTAAAGAAGAACAAATCAGCTTC c.840
M M S T S N S | K D P T V A K E E Q I S F p.280
. . . . . . g.48373
AGAGACTGTGCTGAAGTATTCAAATCAGGACACACCACGAATGGCATCTACACGTTAACA c.900
R D C A E V F K S G H T T N G I Y T L T p.300
. . | 06. . . . g.53518
TTCCCTAATTCTACAGAAGAGATCAAG | GCCTACTGTGACATGGAAGCTGGAGGAGGCGGG c.960
F P N S T E E I K | A Y C D M E A G G G G p.320
. . . . . . g.53578
TGGACAATTATTCAGCGACGTGAGGATGGCAGCGTTGATTTTCAGAGGACTTGGAAAGAA c.1020
W T I I Q R R E D G S V D F Q R T W K E p.340
| 07 . . . . . g.54470
TATAAAGTG | GGATTTGGTAACCCTTCAGGAGAATATTGGCTGGGAAATGAGTTTGTTTCG c.1080
Y K V | G F G N P S G E Y W L G N E F V S p.360
. . . . . . g.54530
CAACTGACTAATCAGCAACGCTATGTGCTTAAAATACACCTTAAAGACTGGGAAGGGAAT c.1140
Q L T N Q Q R Y V L K I H L K D W E G N p.380
. . . . . | 08 . g.59205
GAGGCTTACTCATTGTATGAACATTTCTATCTCTCAAGTGAAGAACTCAATTATAG | GATT c.1200
E A Y S L Y E H F Y L S S E E L N Y R | I p.400
. . . . . . g.59265
CACCTTAAAGGACTTACAGGGACAGCCGGCAAAATAAGCAGCATCAGCCAACCAGGAAAT c.1260
H L K G L T G T A G K I S S I S Q P G N p.420
. . . . . . g.59325
GATTTTAGCACAAAGGATGGAGACAACGACAAATGTATTTGCAAATGTTCACAAATGCTA c.1320
D F S T K D G D N D K C I C K C S Q M L p.440
| 09. . . . . . g.65055
ACAGGAG | GCTGGTGGTTTGATGCATGTGGTCCTTCCAACTTGAACGGAATGTACTATCCA c.1380
T G G | W W F D A C G P S N L N G M Y Y P p.460
. . . . . . g.65115
CAGAGGCAGAACACAAATAAGTTCAACGGCATTAAATGGTACTACTGGAAAGGCTCAGGC c.1440
Q R Q N T N K F N G I K W Y Y W K G S G p.480
. . . . g.65163
TATTCGCTCAAGGCCACAACCATGATGATCCGACCAGCAGATTTCTAA c.1488
Y S L K A T T M M I R P A D F X p.495
. . . . . . g.65223
acatcccagtccacctgaggaactgtctcgaactattttcaaagacttaagcccagtgca c.*60
. . . . . . g.65283
ctgaaagtcacggctgcgcactgtgtcctcttccaccacagagggcgtgtgctcggtgct c.*120
. . . . . . g.65343
gacgggacccacatgctccagattagagcctgtaaactttatcacttaaacttgcatcac c.*180
. . . . . . g.65403
ttaacggaccaaagcaagaccctaaacatccataattgtgattagacagaacacctatgc c.*240
. . . . . . g.65463
aaagatgaacccgaggctgagaatcagactgacagtttacagacgctgctgtcacaacca c.*300
. . . . . . g.65523
agaatgttatgtgcaagtttatcagtaaataactggaaaacagaacacttatgttataca c.*360
. . . . . . g.65583
atacagatcatcttggaactgcattcttctgagcactgtttatacactgtgtaaataccc c.*420
. . . . . . g.65643
atatgtcctgaattcaccatcactatcacaattaaaaggaagaaaaaaactctctaagcc c.*480
. . . . . . g.65703
ataaaaagacatattcagggatattctgagaaggggttactagaagtttaatatttggaa c.*540
. . . . . . g.65763
aaacagttagtgcatttttactccatctcttaggtgctttaaatttttatttcaaaaaca c.*600
. . . . . . g.65823
gcgtatttacatttatgttgacagcttagttataagttaatgctcaaatacgtatttcaa c.*660
. . . . . . g.65883
atttatatggtagaaacttccagaatctctgaaattatcaacagaaacgtgccattttag c.*720
. . . . . . g.65943
tttatatgcagaccgtactatttttttctgcctgattgttaaatatgaaggtatttttag c.*780
. . . . . . g.66003
taattaaatataacttattaggggatatgcctatgtttaacttttatgataatatttaca c.*840
. . . . . . g.66063
attttataatttgtttccaaaagacctaattgtgccttgtgataaggaaacttcttactt c.*900
. . . . . . g.66123
ttaatgatgaggaaaattatacatttcattctatgacaaagaaactttactatcttctca c.*960
. . . . . . g.66183
ctattctaaaacagaggtctgttttctttcctagtaagatatatttttatagaactagac c.*1020
. . . . . . g.66243
tacaatttaatttctggttgagaaaagccttctatttaagaaatttacaaagctatatgt c.*1080
. . . . . . g.66303
ctcaagattcacccttaaatttacttaaggaaaaaaataattgacactagtaagtttttt c.*1140
. . . . . . g.66363
tatgtcaatcagcaaactgaaaaaaaaaaaagggtttcaaagtgcaaaaacaaaatctga c.*1200
. . . . . . g.66423
tgttcataatatatttaaatatttaccaaaaatttgagaacacagggctgggcgcagtgg c.*1260
. . . . . . g.66483
ctcacacctataatcccagtacattggtaggcaaggtgggcagatcacctgaggtcagga c.*1320
. . . . . . g.66543
gttcaagaccagcctggacaacatggtgaaaccctgtctctactaaataatacaaaaatt c.*1380
. . . . . . g.66603
agccaggcgtgctggcgggcacctgtaatcccagctactcgggaggctgaggcagggaga c.*1440
. . . . . . g.66663
attgcttgcaccagggaggtagaggttgcagtgagccaagatcgcaccactgcactccag c.*1500
. . . . . . g.66723
ccggggcaacagagcaagactccatctcaaaaaaaaaaaaaaaaaaagaaagaaaagaaa c.*1560
. . . . . . g.66783
atttgagaacacagctttatactcgggactacaaaaccataaactcctggagttttaact c.*1620
. . . . . . g.66843
ccttttgaaattttcatagtacaattaatactaatgaacatttgtgtaaagctttataat c.*1680
. . . . . . g.66903
ttaaaggcaatttctcatatattcttttctgaatcatttgcaaggaagttcagagtccag c.*1740
. . . . . . g.66963
tctgtaactagcatctactatatgtctgtcttcaccttacagtgttctaccattattttt c.*1800
. . . . . . g.67023
tctttattccatttcaaaatctaatttattttaccccaacttctccccaccacttgacgt c.*1860
. . . . . . g.67083
agttttagaacacacaggtgttgctacatatttggagtcaatgatggactctggcaaagt c.*1920
. . . . . . g.67143
caaggctctgttttatttccaccaaggtgcacttttccaacaactatttaactagttaag c.*1980
. . . . . . g.67203
aacctccctatcttagaactgtatctactttatatttaagaaggttttatgaattcaaca c.*2040
. . . . . . g.67263
acggtatcatggccttgtatcaagttgaaaaacaactgaaaataagaaaatttcacagcc c.*2100
. . . . . . g.67323
tcgaaagacaacaacaagtttctaggatatctcaatgacaagagtgatggatacttaggt c.*2160
. . . . . . g.67383
agggaaacgctaatgcaggaaaaactggcaacaacacaatttatatcaattctctttgta c.*2220
. . . . . . g.67443
ggcaggtgataaaaaattcaaggacaaatctcattatgtcattgtgcatcatatataatc c.*2280
. . . . . . g.67503
tcttatgagcgagaatggggggaatttgtgtttttactttacacttcaattccttacacg c.*2340
. . . . . . g.67563
gtatttcaaacaaacagttttgctgagaggagcttttgtctctccttaagaaaatgttta c.*2400
. . . . . . g.67623
taaagctgaaaggaaatcaaacagtaatcttaaaaatgaaaacaaaacaacccaacaacc c.*2460
. . . . . . g.67683
tagataactacagtgatcagggagcacagttcaactccttgttatgttttagtcatatgg c.*2520
. . . . . . g.67743
cctactcaaacagctaaataacaacaccagtggcagataaaaatcaccatttatctttca c.*2580
. . . . . . g.67803
gctattaatcttttgaatgaataaactgtgacaaacaaattaacatttttgaacatgaaa c.*2640
. . . . . . g.67863
ggcaacttctgcacaatcctgtatccaagcaaactttaaattatccacttaattattact c.*2700
. . . . . . g.67923
taatcttaaaaaaaattagaacccagaacttttcaatgaagcatttgaaagttgaagtgg c.*2760
. . . . . . g.67983
aatttaggaaagccataaaaatataaatactgttatcacagcaccagcaagccataatct c.*2820
. . . . . . g.68043
ttatacctatcagttctatttctattaacagtaaaaacattaagcaagatataagactac c.*2880
. . . . . . g.68103
ctgcccaagaattcagtcttttttcatttttgtttttctcagttctgaggatgttaatcg c.*2940
. . . . . . g.68163
tcaaattttctttggactgcattcctcactactttttgcacaatggtctcacgttctcac c.*3000
. . . . . . g.68223
atttgttctcgcgaataaattgataaaaggtgttaagttctgtgaatgtctttttaatta c.*3060
. . . . . . g.68283
tgggcataattgtgcttgactggataaaaacttaagtccacccttatgtttataataatt c.*3120
. . . . . . g.68343
tcttgagaacagcaaactgcatttaccatcgtaaaacaacatctgacttacgggagctgc c.*3180
. . . . . . g.68403
agggaagtggtgagacagttcgaacggctcctcagaaatccagtgacccaattctaaaga c.*3240
. . . . . . g.68463
ccatagcacctgcaagtgacacaacaagcagatttattatacatttattagccttagcag c.*3300
. . . . . . g.68523
gcaataaaccaagaatcactttgaagacacagcaaaaagtgatacactccgcagatctga c.*3360
. . . . . . g.68583
aatagatgtgttctcagacaacaaagtcccttcagaatcttcatgttgcataaatgttat c.*3420
. . . g.68613
gaatattaataaaaagttgattgagaaaaa c.*3450
(downstream sequence)
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