(used for variant description)
(last modified August 8, 2022)
This file was created to facilitate the description of sequence variants on transcript NM_012120.2 in the CD2AP gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000006.11, covering CD2AP transcript NM_012120.2.
(upstream sequence)
. . . g.5036
ctctgtctgggtccccaccttagtctacggtgtcgc c.-421
. . . . . . g.5096
cttttctaactgcgagtgctaaggaagaggcgaggggcgggctccgaggctaggcgggcg c.-361
. . . . . . g.5156
ctcggggttggagccgagggtctgggcaaaccggtgggtccctccccactgcgggagcgg c.-301
. . . . . . g.5216
ccagggtgggaaaaccgcggtcgggcgggcggggtagggccctcccgccgccgtggctcc c.-241
. . . . . . g.5276
tggggaggccaggggtgaggagctgtcgccgcctttgcctctgcctcgagggccgcgctg c.-181
. . . . . . g.5336
aagagactggtaggagagcgccgcgggcggatggaggcgactcttcgccccgcctgagct c.-121
. . . . . . g.5396
caggaggggctagcgcggagcgcgggtcccgcctccagccgcgggagcggccgcgcgagc c.-61
. . . . . . g.5456
caccactggaggaggaggaggaggagcggacgtcggcttctccccgcgggagcccccagc c.-1
| 02 . . . . . . g.30547
ATGG | TTGACTATATTGTGGAGTATGACTATGATGCTGTACATGATGATGAATTAACTATT c.60
M V | D Y I V E Y D Y D A V H D D E L T I p.20
. . . . . . g.30607
CGAGTTGGAGAAATCATCAGGAATGTGAAAAAGCTACAGGAGGAAGGGTGGCTGGAAGGA c.120
R V G E I I R N V K K L Q E E G W L E G p.40
. . . . | 03 . . g.60828
GAACTAAATGGGAGAAGAGGAATGTTCCCTGACAATTTCGTTAAG | GAAATTAAAAGAGAG c.180
E L N G R R G M F P D N F V K | E I K R E p.60
. . . . . . g.60888
ACGGAATTCAAGGATGACAGTTTGCCCATCAAACGGGAAAGGCATGGGAATGTAGCAAGT c.240
T E F K D D S L P I K R E R H G N V A S p.80
. . . . . . g.60948
CTTGTACAACGAATAAGCACCTATGGACTTCCAGCTGGAGGAATTCAGCCACATCCACAA c.300
L V Q R I S T Y G L P A G G I Q P H P Q p.100
. | 04 . . . . g.71858
ACCAAAAACATTAAGAAGA | AGACCAAGAAGCGTCAGTGTAAAGTTCTTTTTGAGTACATT c.360
T K N I K K K | T K K R Q C K V L F E Y I p.120
. . . . . . g.71918
CCACAAAATGAGGATGAACTGGAGCTGAAAGTGGGAGATATTATTGATATTAATGAAGAG c.420
P Q N E D E L E L K V G D I I D I N E E p.140
| 05 . . . . . . g.81917
| GTAGAAGAAGGCTGGTGGAGTGGAACCCTGAATAACAAGTTGGGACTGTTTCCCTCAAAT c.480
| V E E G W W S G T L N N K L G L F P S N p.160
. . . . . . g.81977
TTTGTGAAAGAATTAGAGGTAACAGATGATGGTGAAACTCATGAAGCCCAGGACGATTCA c.540
F V K E L E V T D D G E T H E A Q D D S p.180
| 06 . . . . . . g.101334
G | AAACTGTTTTGGCTGGGCCTACTTCACCTATACCTTCTCTGGGAAATGTGAGTGAAACT c.600
E | T V L A G P T S P I P S L G N V S E T p.200
. . . . . . g.101394
GCATCTGGATCAGTTACACAGCCAAAGAAAATTCGAGGAATTGGATTTGGAGACATTTTT c.660
A S G S V T Q P K K I R G I G F G D I F p.220
. . . . . . g.101454
AAAGAAGGCTCTGTGAAACTTCGGACAAGAACATCCAGTAGTGAAACAGAAGAGAAAAAA c.720
K E G S V K L R T R T S S S E T E E K K p.240
| 07 . . . . . g.103786
CCAGAAAAG | CCCTTAATCCTACAGTCACTGGGACCCAAAACTCAGAGTGTGGAGATAACA c.780
P E K | P L I L Q S L G P K T Q S V E I T p.260
. . | 08 . . . g.104252
AAAACAGATACCGAAGGTAAAATTAAAG | CTAAAGAATATTGTAGAACATTATTTGCCTAT c.840
K T D T E G K I K A | K E Y C R T L F A Y p.280
. . . . . . g.104312
GAAGGTACTAATGAAGATGAACTTACTTTTAAAGAGGGGGAGATAATCCATTTGATAAGT c.900
E G T N E D E L T F K E G E I I H L I S p.300
| 09 . . . . . . g.106653
AAG | GAGACTGGAGAAGCTGGCTGGTGGAGGGGCGAACTTAATGGTAAAGAAGGAGTATTT c.960
K | E T G E A G W W R G E L N G K E G V F p.320
. . . . | 10 . g.108087
CCAGACAATTTTGCTGTCCAGATAAATGAACTTGATAAAGACTTTCCA | AAACCAAAGAAA c.1020
P D N F A V Q I N E L D K D F P | K P K K p.340
. . | 11 . . . . g.109249
CCACCACCTCCTGCTAAGGCTCCAG | CTCCAAAGCCTGAACTGATAGCTGCAGAGAAGAAA c.1080
P P P P A K A P A | P K P E L I A A E K K p.360
. . | 12 . . . g.123104
TATTTTTCTTTAAAGCCTGAAGAAAAGG | ATGAAAAATCAACACTGGAACAGAAACCTTCT c.1140
Y F S L K P E E K D | E K S T L E Q K P S p.380
. . . . . . g.123164
AAACCAGCAGCTCCACAAGTCCCACCCAAGAAACCTACTCCACCTACCAAAGCCAGTAAT c.1200
K P A A P Q V P P K K P T P P T K A S N p.400
. . . . . . g.123224
TTACTGAGATCTTCTGGAACAGTGTACCCAAAGCGACCTGAAAAACCAGTTCCTCCACCA c.1260
L L R S S G T V Y P K R P E K P V P P P p.420
. | 13 . . . . . g.126558
CCTCCTATAGCCAA | GATTAATGGGGAAGTTTCTAGCATTTCATCAAAATTTGAAACTGAG c.1320
P P I A K | I N G E V S S I S S K F E T E p.440
. . . . . . g.126618
CCAGTATCAAAACTAAAGCTAGATTCTGAACAGCTGCCCCTTAGACCAAAATCAGTAGAC c.1380
P V S K L K L D S E Q L P L R P K S V D p.460
. . . | 14. . . g.133399
TTTGATTCACTTACAGTAAGGACCTCCAAAGAAACAG | ATGTTGTAAATTTTGATGACATA c.1440
F D S L T V R T S K E T D | V V N F D D I p.480
. . . . . . g.133459
GCTTCCTCAGAAAACTTGCTTCATCTCACTGCAAATAGACCAAAGATGCCTGGAAGAAGG c.1500
A S S E N L L H L T A N R P K M P G R R p.500
. . . | 15 . . . g.135168
TTGCCGGGCCGTTTCAATGGTGGACATTCT | CCAACTCACAGCCCCGAAAAAATCTTGAAG c.1560
L P G R F N G G H S | P T H S P E K I L K p.520
. . . . . . g.135228
TTACCAAAAGAAGAAGACAGTGCCAACCTGAAGCCATCTGAATTAAAAAAAGATACATGC c.1620
L P K E E D S A N L K P S E L K K D T C p.540
. | 16 . . . . . g.136382
TACTCTCCAAAG | CCATCTGTGTACCTTTCAACACCTTCCAGTGCTTCTAAAGCAAATACA c.1680
Y S P K | P S V Y L S T P S S A S K A N T p.560
. . . . . . g.136442
ACTGCTTTCCTGACTCCATTAGAAATCAAAGCTAAAGTGGAAACAGATGATGTGAAAAAA c.1740
T A F L T P L E I K A K V E T D D V K K p.580
. . . . . . g.136502
AATTCCCTGGATGAACTTAGAGCCCAGATTATTGAATTGTTGTGCATTGTAGAAGCACTG c.1800
N S L D E L R A Q I I E L L C I V E A L p.600
. | 17 . . . . . g.139730
AAAAAGGATCACGG | GAAAGAACTGGAAAAACTGCGAAAAGATTTGGAAGAAGAGAAGACA c.1860
K K D H G | K E L E K L R K D L E E E K T p.620
. | 18 . . . . g.151439
ATGAGAAGTAATCTAGAG | ATGGAAATAGAGAAGCTGAAAAAAGCTGTCCTGTCTTCTTGA c.1920
M R S N L E | M E I E K L K K A V L S S X p.639
. . . . . . g.151499
gtggtgtggacctggtgttcataatgttccagggattcagaagcaacgctatgaacttca c.*60
. . . . . . g.151559
gctgacttgttacttaaaaattgtgaattctgttgttgtgataaatatgagcaaatgaag c.*120
. . . . . . g.151619
tgtaatatctatagaaaagtagagtgagggtgaatttatatatatattttgttttgccaa c.*180
. . . . . . g.151679
tatgaagaaaaagaggccttatttcttaactgtgctgggattgcaaacactttttaaaaa c.*240
. . . . . . g.151739
attgtttgcttgaaaatactactgaatataaataagaatgtgcacagtagtttttttatt c.*300
. . . . . . g.151799
gaaacttgtattatttttaaagagatctatactataaatatggtgatatatttacaagta c.*360
. . . . . . g.151859
atctgttaagatatactatttgagagggacagattagccttttagtaactatagtcacta c.*420
. . . . . . g.151919
ctttttccataatgcataagggatataaactctgtgtgtgtgtgtgtgtgtgtgtgtgtg c.*480
. . . . . . g.151979
tgtgtgtgtgtgtgtatatatatatatatatttttacttttatcctcttaccgaaggtta c.*540
. . . . . . g.152039
cactgttgtgcctgtttgtctgcaatgctgtttatattttgggtgatgaaataggagttt c.*600
. . . . . . g.152099
cctagctatataaaccagattactcacccatgcatatagtaagaactaatgaataatcaa c.*660
. . . . . . g.152159
aataatttcatcaacttttagaatattttatgttgcttgcactataggagtcataaaagg c.*720
. . . . . . g.152219
aacttagttaaaatatgttggattgttaaacatttggggaaatatgaactgtattttaaa c.*780
. . . . . . g.152279
tttgttaggtctgaagaatctaaaactgttaatttaacccttaacttgtgcctagaaact c.*840
. . . . . . g.152339
acagcacatataaaatatgtaaacaccagcctgttgctgtacttttctgcttattttaca c.*900
. . . . . . g.152399
gcctcaaatatttctcattatcttgtcacttagttcttcatgtttctccttctgactttt c.*960
. . . . . . g.152459
aataatggtaataggaaaacaaaacccaaagcttttcagaacttcagtgtgaggtttcct c.*1020
. . . . . . g.152519
attttgacaagttaacttgtaaatactcaggttttacgatgtataatttacctaatagac c.*1080
. . . . . . g.152579
caaactaactcatggagatattttgaactattatttaggtacaaactttataaagaatgt c.*1140
. . . . . . g.152639
tagtatgtcataaaatataacattacagcttatttaaaaccaaatatagttgaacatatt c.*1200
. . . . . . g.152699
taaaatacattttcacagaatggatgaattagttgtttcttcagagttacttatgaacag c.*1260
. . . . . . g.152759
ttgaatgctttaaaatgttctgtctgtaggtaacatctaaaacacaagtgggtttattta c.*1320
. . . . . . g.152819
aatttttaaaatttgaaattttttatttgcaaaaaattgttttatgctttattatatcgc c.*1380
. . . . . . g.152879
aaatgagtgtcagatttttgagtaccaatgatcatgcttccattttttttagttttaaac c.*1440
. . . . . . g.152939
caccaaaccaatatttttcctttaaattttaatcttataatatagaaatcttatgtaaat c.*1500
. . . . . . g.152999
gaaattttgtcatgtttcaaataaagagaactgaagtagaaaatagaaatgccagtaaac c.*1560
. . . . . . g.153059
aacataatgtttaatttacaacttacattaggggtttgggggaatgctaattatatattg c.*1620
. . . . . . g.153119
agaatatacattagaactcttcaaaatgggctcttctaatgaggtcactactgaacaaaa c.*1680
. . . . . . g.153179
ttgttccctcttctgttaaatagaataggtttaaatgactagtcaaatgaattattttct c.*1740
. . . . . . g.153239
tcttgttaaataaattaaatcttactttcttttaatgaccaaccttaggtaaaacaaaaa c.*1800
. . . . . . g.153299
tattgtaatcctagaaattatcctccagctttctcacctgaaaatctattgaagtgatcc c.*1860
. . . . . . g.153359
ctggtcatcctaataatgggatgagggaagtttccagcagatttcaggctgttcttaaag c.*1920
. . . . . . g.153419
tttttgttggtcattttctcaatagtacatgaaatcaagatgcttatgagcatggaaatg c.*1980
. . . . . . g.153479
tatttaaagtttttgcttgtgtcctcctcagtcagaatagaaaagtaactgaaatacttt c.*2040
. . . . . . g.153539
tacctttctgtccttgataaaatagtaaagaaaaccaaacaaacccaggcctgatgggaa c.*2100
. . . . . . g.153599
aaatgattcctttattctagcaacttactttctgttggtatgggaaatgttattaatttc c.*2160
. . . . . . g.153659
tattactaaagttcatatcacaaaatgatatttaataataaccttggggtaaatcatgaa c.*2220
. . . . . . g.153719
ttttttttctacgtgtgagtataaaagacaaaagttgaacagcatggaatctcattgcca c.*2280
. . . . . . g.153779
aattattagtgaatgtatagttcaggtattctttgagacacacagtatcattaatttctg c.*2340
. . . . . . g.153839
aattgtatttcagtgttattttttgtttgtgaccactaagcttctgtcttaatacaaagc c.*2400
. . . . . . g.153899
tgttaccttctacagaatttaagtctgaagatgtaaagagagaacaggccttgtgtaaca c.*2460
. . . . . . g.153959
gaagatactcttttttatgctccttactgtgatcacagaaaaattaaaaatccaagtgct c.*2520
. . . . . . g.154019
ctctagatttgttgataaacattttatgcttgcatttaaacttgaaatgtatgagcagaa c.*2580
. . . . . . g.154079
tgagacaatcagttaaatcagaaatgagaagtattataatgtaaaggccttgttttgctg c.*2640
. . . . . . g.154139
tagcaataaaatgaccaagtgcaatgacttgatttaataaaatcatattttaaaagttgc c.*2700
. . . . . . g.154199
tgctatgaatatttttggctataaaattttaccctgacttgctttcaataactgttacgt c.*2760
. . . . . . g.154259
aatgcagttgatgttgtaacctaacattccaaaaaaaaaattgagagggggaatctcaaa c.*2820
. . . . . . g.154319
atagtatatacttcactaacttgtttacaggtgctgtatttaaaagcatgcttctctctc c.*2880
. . . . . . g.154379
aaaaagaaaaattaaaggattttattgccagtcgtgtcagtctttattggttattttttg c.*2940
. . . . . . g.154439
ttaactttagcatttgtgtatttcagagtatgatgaaaattatattacttcaatttccaa c.*3000
. . . g.154475
atacaagaataaatagtaaaccaaaaacattaaaaa c.*3036
(downstream sequence)
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