(used for variant description)
(last modified October 28, 2021)
This file was created to facilitate the description of sequence variants on transcript NM_007144.2 in the PCGF2 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000017.10, covering PCGF2 transcript NM_007144.2.
(upstream sequence)
g.5003
tct c.-241
. . . . . . g.5063
cccctcccgccgcccgggcgagcgacacggctgcggcccccctcccctcccttccctccc c.-181
. . . . . | 02 . g.5347
tccctcccatccccccctccccgagacccaccggaccccgaacccag | atggccgaaacgg c.-121
. . . . . . g.5407
gctccccgtcttaacgatttggcgtctccctcgaccaccacctctttgtgcagcagcccc c.-61
. . | 03 . . . g.12903
cgggcagaccctgttccgag | ggcaacgctccccagtccccccacccccgaccccggaatc c.-1
. . . . . . g.12963
ATGCATCGGACTACACGGATCAAAATCACAGAGCTGAACCCCCACCTCATGTGTGCCCTC c.60
M H R T T R I K I T E L N P H L M C A L p.20
. . . . . | 04 . g.13631
TGCGGGGGGTACTTCATCGACGCCACCACTATCGTGGAGTGCCTGCATTCCT | TCTGCAAA c.120
C G G Y F I D A T T I V E C L H S F | C K p.40
. . . . . . g.13691
ACCTGCATCGTGCGCTACCTGGAGACCAACAAATACTGCCCCATGTGTGACGTGCAGGTC c.180
T C I V R Y L E T N K Y C P M C D V Q V p.60
. . | 05 . . . g.14083
CATAAAACCCGGCCGCTGCTGAGCATCAG | GTCTGACAAAACACTTCAAGACATTGTCTAC c.240
H K T R P L L S I R | S D K T L Q D I V Y p.80
. . | 06 . . . . g.14222
AAATTGGTCCCTGGGCTTTTTAAAG | ATGAGATGAAACGGCGGCGGGATTTCTATGCAGCG c.300
K L V P G L F K D | E M K R R R D F Y A A p.100
. | 07 . . . . . g.14488
TACCCCCTGACGGAGG | TCCCCAACGGCTCCAATGAGGACCGCGGCGAGGTCTTGGAGCAG c.360
Y P L T E V | P N G S N E D R G E V L E Q p.120
. . . . . . g.14548
GAGAAGGGGGCTCTGAGTGATGATGAGATTGTCAGCCTCTCCATCGAATTCTACGAAGGT c.420
E K G A L S D D E I V S L S I E F Y E G p.140
| 08 . . . . . . g.14765
GCCAG | GGACCGGGACGAGAAGAAGGGCCCCCTGGAGAATGGGGATGGGGACAAAGAGAAA c.480
A R | D R D E K K G P L E N G D G D K E K p.160
| 09 . . . . . . g.14917
| ACAGGGGTGCGCTTCCTGCGATGCCCAGCAGCCATGACCGTCATGCATCTTGCCAAGTTT c.540
| T G V R F L R C P A A M T V M H L A K F p.180
. . . | 10 . . . g.17159
CTCCGCAACAAGATGGATGTGCCCAGCAAGTACAAG | GTGGAGGTTCTGTACGAGGACGAG c.600
L R N K M D V P S K Y K | V E V L Y E D E p.200
. . . . . | 11. g.17708
CCACTGAAGGAATACTACACCCTCATGGACATCGCCTACATCTACCCCTGGCGGCGG | AAC c.660
P L K E Y Y T L M D I A Y I Y P W R R | N p.220
. . . . . . g.17768
GGGCCTCTCCCCCTCAAGTACCGTGTCCAGCCAGCCTGCAAGCGGCTCACCCTAGCCACG c.720
G P L P L K Y R V Q P A C K R L T L A T p.240
. . . . . . g.17828
GTGCCCACCCCCTCCGAGGGCACCAACACCAGCGGGGCGTCCGAGTGTGAGTCAGTCAGC c.780
V P T P S E G T N T S G A S E C E S V S p.260
. . . . . . g.17888
GACAAGGCTCCCAGCCCTGCCACCCTGCCAGCCACCTCCTCCTCCCTGCCCAGCCCAGCC c.840
D K A P S P A T L P A T S S S L P S P A p.280
. . . . . . g.17948
ACCCCATCCCATGGCTCTCCCAGTTCCCATGGGCCTCCAGCCACCCACCCTACCTCCCCC c.900
T P S H G S P S S H G P P A T H P T S P p.300
. . . . . . g.18008
ACTCCCCCTTCGACAGCCAGTGGGGCCACCACAGCTGCCAACGGGGGTAGCTTGAACTGC c.960
T P P S T A S G A T T A A N G G S L N C p.320
. . . . . . g.18068
CTGCAGACACCATCCTCCACCAGCAGGGGGCGCAAGATGACTGTCAACGGCGCTCCCGTG c.1020
L Q T P S S T S R G R K M T V N G A P V p.340
. g.18083
CCCCCCTTAACTTGA c.1035
P P L T X p.344
. . . . . . g.18143
ggccagggaccctctcccttcttccagccaagcctctccactccttccactttttctggg c.*60
. . . . . . g.18203
cccttttttccacctcttctactttccccagctcttcccaccttgggggtggggggcggg c.*120
. . . . . . g.18263
ttttataaataaatatatatatatatgtacataggaaaaaccaaatatacatacttattt c.*180
. . . . . . g.18323
tctatggaccaaccagattaatttaaatgccacaggaaacaaactttatgtgtgtgtgta c.*240
. . . . . . g.18383
tgtgtggaaaatggtgttcattttttttggggggggtcttgtgtaatttgctgtttttgg c.*300
. . . . . . g.18443
gggtgcctggagatgaactggatgggccactggagtctcaataaagctctgcaccatcct c.*360
. . . . . . g.18503
cgctgtttcccaaggcaggtggtgtgttgggggccccttcagacccaaagctttaggcat c.*420
. . . . . . g.18563
gattccaactggctgcatataggagtcagttagaatcgtttctttctctccccgtttctc c.*480
. . . . . . g.18623
tccccatcttggctgctgtcctgcctctgaccagtggccgccccccacgttgttgaatgt c.*540
. . . . . . g.18683
ccagaaattgctaagaacagtgccttttacaaatgcagtttatccctggttctgaggagc c.*600
. . . . . . g.18743
aagtgcagggtggaggtggcacctgcatcacctcctcctcttgcagtggaaactttgtgc c.*660
. . . . . . g.18803
aaagaatagatagttctgcctctttttttttttttcctgtgtgtgtggcctttgcatcat c.*720
. . . . . . g.18863
ttatcttgtggaaaagaagattcaggccctgagaggtctcagctcttggaggagggctaa c.*780
. . . . . . g.18923
ggctttagcattgtgaagcgctgcacccccaccaaccttaccctcaccggggaaccctca c.*840
. . . . . . g.18983
ctagcaggactggtggtggagtctcacctggggcctagagtggaagtgggggtgggttaa c.*900
. . . . . . g.19043
cctcacacaagcacagatcccagactttgccagaggcaaacagccttccaattgcccctc c.*960
. . . . . . g.19103
cacccccagctgaggcccggtcacctggtcaggacagagcaactgcatctaaaagcacaa c.*1020
. . . . . . g.19163
gaagacagaaacctgtaagctctgaccccacccccaccccttgagaggtcagcggaccac c.*1080
. . . . . . g.19223
ctccttagggacagaccctggcaggtcgctgcccaccgagatttcctcaagtgtgcatag c.*1140
. . . . . . g.19283
atctgagaggagtcgggagtcgagactcgagattccatcatagcgtaggtgtgtggggtt c.*1200
. . . . . . g.19343
gggagccccctgatgggcttgtctgtgtttgcaccttgtcctgtgtctgaggtcctgtga c.*1260
. . . . . . g.19403
ctgtaccctcctttgccctgggacatctgtatctcttggctttgtaataaatgctgcata c.*1320
g.19409
ctttct c.*1326
(downstream sequence)
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