(used for variant description)
(last modified February 16, 2014)
This file was created to facilitate the description of sequence variants on transcript NM_001232.3 in the CASQ2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000001.10, covering CASQ2 transcript NM_001232.3.
(upstream sequence)
. . g.5024
agcttggctgtttttctactctca c.-241
. . . . . . g.5084
tgcgtgcgtgcgtgcgtgcgtgtgtgtgtgtgtgtgcctctgctctttgtcctgagccca c.-181
. . . . . . g.5144
cgattccagagctggctggacccaaggaggtgaagagtcacttttcagccccaggaaggg c.-121
. . . . . . g.5204
caaagaagagagaaaatcagcctgtctgctctctccttggctcaacaaggcctctaacag c.-61
. . . . . . g.5264
tcttctgtcctctattctgcacacagcatatttgggaacgagaaacaaaagttttcccaa c.-1
. . . . . . g.5324
ATGAAGAGAACTCACTTGTTTATTGTGGGGATTTATTTTCTGTCCTCTTGCAGGGCAGAA c.60
M K R T H L F I V G I Y F L S S C R A E p.20
. . . . . . g.5384
GAGGGGCTTAATTTCCCCACATATGATGGGAAGGACCGAGTGGTAAGTCTTTCCGAGAAG c.120
E G L N F P T Y D G K D R V V S L S E K p.40
. . . . . . g.5444
AACTTCAAGCAGGTTTTAAAGAAATATGACTTGCTTTGCCTCTACTACCATGAGCCGGTG c.180
N F K Q V L K K Y D L L C L Y Y H E P V p.60
. . . . . | 02 . g.28899
TCTTCAGATAAGGTCACGCAAAAACAGTTCCAACTGAAAGAAATCGTGCTTGAG | CTTGTG c.240
S S D K V T Q K Q F Q L K E I V L E | L V p.80
. . . . . . g.28959
GCCCAGGTCCTTGAACATAAAGCTATAGGCTTTGTGATGGTGGATGCCAAGAAAGAAGCC c.300
A Q V L E H K A I G F V M V D A K K E A p.100
. | 03 . . . . g.33018
AAGCTTGCCAAGAAACTGG | GTTTTGATGAAGAAGGAAGCCTGTATATTCTTAAGGGTGAT c.360
K L A K K L G | F D E E G S L Y I L K G D p.120
. . . . . . g.33078
CGCACAATAGAGTTTGATGGCGAGTTTGCAGCTGATGTCTTGGTGGAGTTCCTCTTGGAT c.420
R T I E F D G E F A A D V L V E F L L D p.140
| 04 . . . . . . g.35530
| CTAATTGAAGACCCAGTGGAGATCATCAGCAGCAAACTGGAAGTCCAAGCCTTCGAACGC c.480
| L I E D P V E I I S S K L E V Q A F E R p.160
. . . . . | 05 . g.40839
ATTGAAGACTACATCAAACTCATTGGCTTTTTCAAGAGTGAGGACTCAGAAT | ACTACAAG c.540
I E D Y I K L I G F F K S E D S E Y | Y K p.180
. . . . . . g.40899
GCTTTTGAAGAAGCAGCTGAACACTTCCAGCCTTACATCAAATTCTTTGCCACCTTTGAC c.600
A F E E A A E H F Q P Y I K F F A T F D p.200
| 06 . . . . . . g.46737
AAAGGG | GTTGCAAAGAAATTATCTTTGAAGATGAATGAGGTTGACTTCTATGAGCCATTT c.660
K G | V A K K L S L K M N E V D F Y E P F p.220
. . . . . . g.46797
ATGGATGAGCCCATTGCCATCCCCAACAAACCTTACACAGAAGAGGAGCTGGTGGAGTTT c.720
M D E P I A I P N K P Y T E E E L V E F p.240
. | 07. . . . . g.48295
GTGAAGGAACACCAAAG | ACCCACTCTACGTCGCCTGCGCCCAGAAGAAATGTTTGAAACA c.780
V K E H Q R | P T L R R L R P E E M F E T p.260
| 08 . . . . . | 09 g.68515
TGG | GAAGATGATTTGAATGGGATCCACATTGTGGCCTTTGCAGAGAAGAGTGATCCAG | AT c.840
W | E D D L N G I H I V A F A E K S D P D | p.280
. . . . . . g.68575
GGCTACGAATTCCTGGAGATCCTGAAACAGGTTGCCCGGGACAATACTGACAACCCCGAT c.900
G Y E F L E I L K Q V A R D N T D N P D p.300
. . . | 10 . . g.70831
CTGAGCATCCTGTGGATCGACCCGGACGACTTTCCTCTG | CTCGTTGCCTACTGGGAGAAG c.960
L S I L W I D P D D F P L | L V A Y W E K p.320
. . . . . | 11 . g.72385
ACTTTCAAGATTGACCTATTCAGGCCACAGATTGGGGTGGTGAATGTCACAGAT | GCTGAC c.1020
T F K I D L F R P Q I G V V N V T D | A D p.340
. . . . . . g.72445
AGTGTCTGGATGGAGATTCCAGATGATGACGATCTTCCAACTGCTGAGGAGCTGGAGGAC c.1080
S V W M E I P D D D D L P T A E E L E D p.360
. . . . . . g.72505
TGGATTGAGGATGTGCTTTCTGGAAAGATAAACACTGAAGATGATGATGAAGATGATGAT c.1140
W I E D V L S G K I N T E D D D E D D D p.380
. . . . . . g.72565
GATGATGATAATTCTGATGAAGAGGATAATGATGACAGTGATGACGATGATGATGAATAG c.1200
D D D N S D E E D N D D S D D D D D E X p.399
. . . . . . g.72625
cccaactccaaacaattctgatgaaaacaaaatcacagcacccactaccatacagacagc c.*60
. . . . . . g.72685
acaaggtggcagcaagcaattctgccccacacccagccagctcctttcccttttccatca c.*120
. . . . . . g.72745
tctcttttcccactccctttgcgtcaggagcagcatcattcagcaaatgccttttcaaat c.*180
. . . . . . g.72805
gcagcaatcccacttagcagggacaggagaaaaattattcccatgttgactgtcttgact c.*240
. . . . . . g.72865
gtcacggaacagatcttgttctttgctggaccatcaagggtcatggcagtgcctgaacat c.*300
. . . . . . g.72925
ggcagtctagggtgaacaatcccctaacacaagtttacttgtctttgattatgacagtaa c.*360
. . . . . . g.72985
caaaattgacagctttctaactcacaggcatagagtgaccttttaatcagagcccaggga c.*420
. . . . . . g.73045
agacacatgattaatgatttagctccctccatacctcgaacatcagttgggatccctcct c.*480
. . . . . . g.73105
ccagccaagatgatccttcttagagaaggctcagccttggaagcaaacttataaatcata c.*540
. . . . . . g.73165
ttctcatggctttgttaaacttatttcaagtgatggtcattcatatcactatgaacttgg c.*600
. . . . . . g.73225
atattcaagcctttggatggctatggagagggcttgaaatgtgtacaggtgtcaccatca c.*660
. . . . . . g.73285
tttctagtatattaggaaactgggatgggaggttgatttgctctctaaacttccctctag c.*720
. . . . . . g.73345
ttggcaagtctcacatattcatcagcaggagtggagggtgggggaaaactagaaagatga c.*780
. . . . . . g.73405
aaacttttacatttttctgatgggttcatgtctctgattgggtcagctggcttcctagcc c.*840
. . . . . . g.73465
taagctgggatctgaataccccttctctgtagctgctagtgagccttcccatttagatta c.*900
. . . . . . g.73525
aagattgctttatccagcagtcaattaactctccagttatcagtactcccacaattggcc c.*960
. . . . . . g.73585
agggcaacaataattggagttcatactgatgccctgaggcactgaaaaaaaaaaaaatcc c.*1020
. . . . . . g.73645
caaagtgccttctgagctgtctaaaagttacattgtgcttggtagatttagtgttaagtg c.*1080
. . . . . . g.73705
tgcagtataattttctaatttattttctcaatcttttagcacatgtgtaagacactgtgc c.*1140
. . . . . . g.73765
aaattttttgaaaatagagcaatactttttgtggaatactagctaactaattctgtcatt c.*1200
. . . g.73803
aaactcatattttgaaaatattcagacaatgttgaaaa c.*1238
(downstream sequence)
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