(used for variant description)
(last modified November 30, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_001201427.1 in the DAAM2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering DAAM2 transcript NM_001201427.1.
(upstream sequence)
. g.5019
cggagcacgcagcagcgag c.-121
. . . . . . g.5079
cggagcgcgggcggcggcgccgtacctcgggctgcgggagcgcgggcgccctggggtcct c.-61
. | 02 . . . . . g.68920
cgga | atcacaatgaggacctagggcatctgtctgctgacgccccctggcctgcagtgacc c.-1
. . . . . . g.68980
ATGGCCCCCCGCAAGAGGAGCCACCATGGCCTGGGCTTCCTGTGCTGCTTCGGGGGCAGT c.60
M A P R K R S H H G L G F L C C F G G S p.20
. . . . . . g.69040
GACATCCCCGAAATCAACCTCCGGGACAACCACCCTCTGCAGTTCATGGAGTTCTCCAGC c.120
D I P E I N L R D N H P L Q F M E F S S p.40
. . . . | 03 . g.73557
CCCATCCCGAACGCAGAGGAGCTCAACATCCGCTTTGCAGAGCTGGTG | GATGAATTGGAT c.180
P I P N A E E L N I R F A E L V | D E L D p.60
. . . . . . g.73617
CTCACTGACAAAAACCGAGAGGCTATGTTTGCACTGCCCCCTGAGAAGAAATGGCAGATC c.240
L T D K N R E A M F A L P P E K K W Q I p.80
. | 04 . . . . g.77092
TACTGCAGCAAGAAGAAG | GAGCAGGAGGACCCCAACAAGCTGGCAACCAGCTGGCCTGAC c.300
Y C S K K K | E Q E D P N K L A T S W P D p.100
. . . | 05 . . . g.77624
TATTACATCGACCGCATCAATTCCATGGCTGCG | ATGCAGAGTCTGTACGCGTTTGATGAG c.360
Y Y I D R I N S M A A | M Q S L Y A F D E p.120
. . . . . . g.77684
GAGGAGACGGAGATGAGGAACCAAGTCGTGGAAGACCTGAAGACAGCCCTCCGGACACAG c.420
E E T E M R N Q V V E D L K T A L R T Q p.140
| 06 . . . . . g.80179
CCTATGAG | GTTTGTGACCCGCTTCATTGAGCTGGAGGGCTTGACCTGTCTGCTAAATTTC c.480
P M R | F V T R F I E L E G L T C L L N F p.160
. . . . . . g.80239
CTCCGGAGCATGGACCACGCCACCTGTGAGAGCCGCATCCACACCTCACTCATTGGCTGC c.540
L R S M D H A T C E S R I H T S L I G C p.180
. . . . . . g.80299
ATCAAAGCATTGATGAACAACTCCCAGGGGCGGGCACATGTGCTGGCACAGCCTGAGGCC c.600
I K A L M N N S Q G R A H V L A Q P E A p.200
. . . . . . g.80359
ATTAGTACCATAGCCCAGAGCCTACGCACAGAGAACAGCAAGACCAAGGTGGCTGTGCTG c.660
I S T I A Q S L R T E N S K T K V A V L p.220
. . . . . . g.80419
GAGATCCTGGGTGCTGTGTGCCTCGTGCCTGGTGGCCACAAGAAGGTGCTGCAGGCCATG c.720
E I L G A V C L V P G G H K K V L Q A M p.240
. . . . | 07 . . g.81458
CTGCACTACCAGGTGTATGCAGCAGAGCGAACCCGCTTCCAG | ACCCTGCTGAACGAGCTA c.780
L H Y Q V Y A A E R T R F Q | T L L N E L p.260
. . . . . . g.81518
GACCGAAGTCTGGGCCGGTACCGGGATGAAGTGAATCTGAAAACAGCCATCATGTCCTTC c.840
D R S L G R Y R D E V N L K T A I M S F p.280
. . . | 08 . . . g.82984
ATCAATGCTGTCCTCAATGCTGGAGCTGGAGAG | GATAATCTGGAGTTCCGCCTACATCTA c.900
I N A V L N A G A G E | D N L E F R L H L p.300
. . . . . . g.83044
CGGTATGAATTCCTGATGCTGGGTATACAGCCTGTGATTGACAAGCTCCGGCAACATGAA c.960
R Y E F L M L G I Q P V I D K L R Q H E p.320
. | 09. . . . . g.84166
AATGCCATCCTGGACAA | ACATTTAGACTTCTTCGAGATGGTGCGGAATGAGGATGACCTG c.1020
N A I L D K | H L D F F E M V R N E D D L p.340
. . | 10 . . . . g.85891
GAGCTAGCCAGGAGGTTTGACATG | GTCCACATCGACACCAAGAGTGCTTCCCAGATGTTT c.1080
E L A R R F D M | V H I D T K S A S Q M F p.360
. . . . . . g.85951
GAGTTGATCCACAAGAAGCTGAAGTACACGGAGGCCTACCCCTGCCTGCTCTCTGTGCTG c.1140
E L I H K K L K Y T E A Y P C L L S V L p.380
. . | 11 . . . . g.87985
CACCACTGCCTGCAGATGCCCT | ACAAACGGAACGGTGGCTACTTCCAGCAGTGGCAGCTC c.1200
H H C L Q M P Y | K R N G G Y F Q Q W Q L p.400
. . . . . . g.88045
CTGGACCGCATCCTCCAGCAGATTGTCCTCCAGGATGAGCGGGGTGTGGACCCTGACCTG c.1260
L D R I L Q Q I V L Q D E R G V D P D L p.420
. . . . | 12 . . g.90839
GCTCCCTTGGAGAACTTCAATGTCAAGAACATCGTCAACAT | GCTCATCAACGAGAATGAA c.1320
A P L E N F N V K N I V N M | L I N E N E p.440
. . . . | 13 . . g.91041
GTGAAACAGTGGCGAGACCAGGCAGAGAAGTTCCGGAAAG | AACACATGGAGCTTGTGAGC c.1380
V K Q W R D Q A E K F R K E | H M E L V S p.460
. . . . . . g.91101
CGTCTGGAGAGGAAGGAGCGGGAATGCGAGACAAAGACATTGGAGAAGGAAGAGATGATG c.1440
R L E R K E R E C E T K T L E K E E M M p.480
. . . . . . g.91161
CGGACGCTGAACAAAATGAAGGACAAGCTGGCCCGGGAGTCCCAGGAGCTGCGCCAGGCT c.1500
R T L N K M K D K L A R E S Q E L R Q A p.500
. . . . | 14 . . g.91810
CGGGGACAAGTGGCAGAGCTGGTAGCCCAGCTCAGTGAACTCTCA | ACAGGCCCTGTATCT c.1560
R G Q V A E L V A Q L S E L S | T G P V S p.520
. . . . . . g.91870
TCCCCACCACCCCCTGGGGGCCCACTCACCTTGTCTTCCTCAATGACAACCAATGACCTG c.1620
S P P P P G G P L T L S S S M T T N D L p.540
. . . . . . g.91930
CCTCCACCCCCTCCTCCTCTGCCCTTTGCCTGTTGTCCCCCTCCCCCACCACCACCCCTT c.1680
P P P P P P L P F A C C P P P P P P P L p.560
. . . . . . g.91990
CCTCCCGGGGGACCCCCGACTCCCCCAGGTGCCCCACCTTGCCTCGGCATGGGCCTGCCC c.1740
P P G G P P T P P G A P P C L G M G L P p.580
. . . . . . g.92050
CTCCCTCAGGACCCCTACCCCAGCAGTGACGTCCCACTCAGGAAAAAGCGTGTCCCCCAG c.1800
L P Q D P Y P S S D V P L R K K R V P Q p.600
. . . . | 15 . . g.96594
CCTTCTCACCCACTGAAGTCCTTCAACTGGGTGAAGCTGAATGAG | GAGCGTGTCCCTGGC c.1860
P S H P L K S F N W V K L N E | E R V P G p.620
. . . . . . g.96654
ACCGTATGGAATGAGATTGATGACATGCAGGTATTTCGGATCCTGGACCTAGAGGATTTT c.1920
T V W N E I D D M Q V F R I L D L E D F p.640
. . . | 16 . . . g.100130
GAAAAGATGTTTTCAGCCTACCAGAGGCACCAG | AAAGAGCTGGGCTCCACTGAAGACATC c.1980
E K M F S A Y Q R H Q | K E L G S T E D I p.660
. . . . . . g.100190
TACCTGGCTTCCCGCAAGGTCAAAGAGCTGTCGGTCATTGATGGCCGGAGGGCCCAAAAC c.2040
Y L A S R K V K E L S V I D G R R A Q N p.680
. . | 17 . . . . g.101336
TGCATCATCCTTCTTTCCAA | GTTGAAGCTTTCTAACGAGGAGATCCGGCAGGCCATCTTG c.2100
C I I L L S K | L K L S N E E I R Q A I L p.700
. . . . | 18 . . g.103973
AAGATGGATGAGCAGGAGGACCTTGCTAAGGACATGCTGGAGCAG | CTCCTCAAGTTCATC c.2160
K M D E Q E D L A K D M L E Q | L L K F I p.720
. . . . . . g.104033
CCAGAGAAGAGTGACATTGACCTCCTGGAGGAGCACAAGCATGAAATTGAGCGGATGGCC c.2220
P E K S D I D L L E E H K H E I E R M A p.740
. . . | 19 . . . g.104279
CGTGCTGACCGCTTCCTCTATGAAATGAGCAG | GATTGACCACTACCAGCAGCGACTGCAA c.2280
R A D R F L Y E M S R | I D H Y Q Q R L Q p.760
. . . . . . g.104339
GCCCTCTTCTTCAAGAAGAAATTCCAGGAGCGGCTGGCTGAGGCAAAGCCCAAAGTGGAA c.2340
A L F F K K K F Q E R L A E A K P K V E p.780
| 20 . . . . . . g.109488
G | CCATCCTGTTGGCCTCCCGGGAGCTGGTCCGCAGCAAGCGTCTTAGACAGATGCTAGAG c.2400
A | I L L A S R E L V R S K R L R Q M L E p.800
. . . . . . g.109548
GTCATCCTAGCCATAGGCAACTTCATGAACAAAGGGCAGCGTGGGGGCGCCTACGGGTTC c.2460
V I L A I G N F M N K G Q R G G A Y G F p.820
. . . . . | 21 . g.109802
CGGGTGGCCAGCCTCAACAAGATCGCTGACACCAAGTCCAGCATCGACAG | AAACATCTCT c.2520
R V A S L N K I A D T K S S I D R | N I S p.840
. . . . . . g.109862
CTGCTCCATTACCTGATCATGATCCTGGAGAAGCATTTTCCTGATATTCTAAACATGCCT c.2580
L L H Y L I M I L E K H F P D I L N M P p.860
. . . | 22 . . g.111516
TCAGAGCTGCAACATCTTCCAGAAGCTGCCAAAGTCAA | CCTAGCAGAACTGGAGAAGGAG c.2640
S E L Q H L P E A A K V N | L A E L E K E p.880
. . . | 23 . . g.112715
GTGGGCAACCTCAGGAGGGGCCTGAGAGCGGTGGAGGTG | GAGCTGGAGTATCAGAGGCGC c.2700
V G N L R R G L R A V E V | E L E Y Q R R p.900
. . . . . . g.112775
CAGGTACGGGAGCCCAGTGACAAGTTTGTCCCTGTCATGAGCGACTTCATCACGGTGTCC c.2760
Q V R E P S D K F V P V M S D F I T V S p.920
. . . . . | 24 . g.113928
AGCTTCAGCTTCTCCGAGCTGGAGGACCAGCTAAATGAGGCCAGGGACAAG | TTCGCCAAG c.2820
S F S F S E L E D Q L N E A R D K | F A K p.940
. . . . . . g.113988
GCCTTGATGCACTTCGGGGAGCATGACAGCAAGATGCAGCCAGACGAATTCTTTGGCATC c.2880
A L M H F G E H D S K M Q P D E F F G I p.960
. . . . . . g.114048
TTTGATACCTTCTTGCAGGCCTTCTCAGAGGCCCGGCAGGATCTAGAGGCCATGAGGAGG c.2940
F D T F L Q A F S E A R Q D L E A M R R p.980
. . . . | 25 . . g.114448
AGGAAGGAGGAGGAGGAGCGGCGGGCGCGCATGGAAGCCATG | CTGAAGGAGCAGAGGGAA c.3000
R K E E E E R R A R M E A M | L K E Q R E p.1000
. . . . . . g.114508
CGTGAGCGGTGGCAGCGGCAGCGGAAGGTCCTGGCTGCAGGCAGCTCGCTGGAGGAGGGA c.3060
R E R W Q R Q R K V L A A G S S L E E G p.1020
. . . . . . g.114568
GGAGAGTTCGATGACCTGGTGTCGGCCCTGCGCTCTGGGGAGGTCTTCGACAAGGACTTA c.3120
G E F D D L V S A L R S G E V F D K D L p.1040
. . . . . . g.114628
TGCAAGCTCAAGCGCAGCCGCAAGCGATCAGGGAGCCAGGCCCTGGAAGTTACCCGGGAG c.3180
C K L K R S R K R S G S Q A L E V T R E p.1060
. . g.114655
CGGGCAATAAACCGGCTAAATTATTGA c.3207
R A I N R L N Y X p.1068
. . . . . . g.114715
cctggggaactagccacacaggaggccgggagacagggactggtgagaatggggctgagt c.*60
. . . . . . g.114775
ggaggaggtggtgatatttaaaccatttggtgcttggtttagagccttgggctgggtcct c.*120
. . . . . . g.114835
gggatggggggctgtgtgtggctggaccaggtgtctccccacgcttaccttaaggggctc c.*180
. . . . . . g.114895
ctcttatctccccttcacatgattccttctgtgccctggccccaggtattattctgaggc c.*240
. . . . . . g.114955
tgccttggatggcctcaggccaggtaaccccaggctgaaggggccctgctccccatcccc c.*300
. . . . . . g.115015
taccatgggcacccatgtgctggcacagaacagttccagatctagactggagaggtccac c.*360
. . . . . . g.115075
agccttgtccagagttcctgtgtagcacggggagcaatgatggagggagcccctgagagg c.*420
. . . . . . g.115135
gaatctggtgagggaatccagactcccttctctcaaggggaggctcaacagaacattgac c.*480
. . . . . . g.115195
ctgggggcaaactttcctcttgaatgggaacagaggaggcattatatattctagttagat c.*540
. . . . . . g.115255
cagctctggtaggttccagagaacagtcaatgttggaaggatgatgcagggaccaaagcc c.*600
. . . . . . g.115315
atcaggacagagtagcagtgtctgtttcccatgtcacaagtcctctggcctctccctgca c.*660
. . . . . . g.115375
tgtcttaagtatctttcccttccttctctaccctcacctccatcctgtctactaatccac c.*720
. . . . . . g.115435
agtcctagaagactcaccttgggtttccacagctatggctcactaccaggtgcttgatga c.*780
. . . . . . g.115495
atctggcgaggggctcaagacagacctcatgcatcaccacacctcatgccttttgggcat c.*840
. . . . . . g.115555
ctcccatgtccccatctcctggacacctggccattgttgtgaagccagacagtgacctca c.*900
. . . . . . g.115615
aatgttgccttggagtcccctacagcccctcagcagagggcagcacttgaatgcttagct c.*960
. . . . . . g.115675
ccatcccatagttctctacttcatataaattgctcaggccctcccaccccttctctaaca c.*1020
. . . . . . g.115735
ctagcttcaaggcagaagccacagcagcctctgtccagcctgcaggtggccacttggaac c.*1080
. . . . . . g.115795
catgtgtccactggcgttggggagttggttcctgagaggtctgagggccagagctgccct c.*1140
. . . . . . g.115855
ctacattaacatgctgtctctaagggtggcccctcctctcaggcgttcagatggtgcgaa c.*1200
. . . . . . g.115915
cagcagagcaggcaagggaaactggggagatggggatggaggaggaaggctgatatcctc c.*1260
. . . . . . g.115975
tggggagcacatcacctgaaggtgccaaggaggaaggctgagaggggggccaccccattt c.*1320
. . . . . . g.116035
ctggtacccaatttggttcttcagcccaacttgcaaggggttccttctggtcctcccatc c.*1380
. . . . . . g.116095
cactgccaccttccattttgtccatctcatgctggccttggtggatgggatggctgtatc c.*1440
. . . . . . g.116155
tagacaaaatttttctaaaactccatcaaggctcttattcaataccacgttccgagttgg c.*1500
. . . . . . g.116215
cctttcatcttctttgagactggccctgcctaacctctaccatcaatgagctcttggccc c.*1560
. . . . . . g.116275
ttctgcccttccctgtgtttctcactttccaacctaatccctggctcagggttattgcca c.*1620
. . . . . . g.116335
gtggagactggtgagctgggcctactctcagctgcctatcttctgcctttcacttgcatc c.*1680
. . . . . . g.116395
caactcctggggctgggaccgtagtagctgcgggggggaagaaacacagggtcggtgagc c.*1740
. . . . . . g.116455
ccagcatgtgcgttggtttgagggggcgggcggtgtgtgtgtgttctggtgggagggatc c.*1800
. . . . . . g.116515
tgagcaagtgcaagcctggctgacacaggtgtgaagaggccatcctggaacccaggtgag c.*1860
. . . . . . g.116575
ggcaagatgaaggcttccaggcagaacagctgcagagagtttggctatatgcatctgcag c.*1920
. . . . . . g.116635
ccccaagagctcccactgcaagacaagtgttggggaagatgggaggttgtgggtgaggcc c.*1980
. . . . . . g.116695
tctaaaggtcctctcccaaactgaccaggctgatgtcaacctaaccccctcaggggcagg c.*2040
. . . . . . g.116755
gaacaggggagggctccacaagcgtgtctggcattcccacccaccatggaagactggata c.*2100
. . . . . . g.116815
cgcacctggaaacaaaaggactatggaagctgttcaagatacatttgatcttcagaaaag c.*2160
. . . . . . g.116875
cagaatttggttcaactgttgacagaggacacaaatacgttgttccagagctcagccttc c.*2220
. . . . . . g.116935
tcactctaaaagaaagatatttttctatttattttctacatctggccagtggctctggtg c.*2280
. . . . . . g.116995
ctagatgccactgtagccagatctccaacagtgccttggaccatggactcatactcaact c.*2340
. . . . . . g.117055
gagtaagaaggggctggtgcccagtcggggtggctgagctggtccttaataggttgtttc c.*2400
. . . . . . g.117115
ttggtcttgctttcttcatgccctccccactgctcctgccacctttagataagtttctct c.*2460
. . . . . . g.117175
agctaattttgtggccaatgtaaaattcgtcatcaacctaacaaacacaaccttctcagc c.*2520
. . . . . . g.117235
agcatttctcccctgtgatggaaataaagtgtttagggcagtgggaggagaaaattctcc c.*2580
. . . . . . g.117295
aggtgaatggggaagggtctgttccagcctctccctactcccatcccatttccaccaact c.*2640
. . . . . . g.117355
ggggaactgtgactatctatctcccccgacttctaccagggatgccttcacgccaaggct c.*2700
. . . . . . g.117415
gttctcaccagctgcctcagatgacaaatgaggctaatggacataatctacagtgtcctt c.*2760
. . . . . . g.117475
tttcacttgcaccttttttataagaatatattgtaatactaaaaaatattaaattcatac c.*2820
. . g.117495
catccctacccagtctgcct c.*2840
(downstream sequence)
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