Canonical Allele Identifier: CA10613357
Gene: MSTN HGNC NCBI
C2orf88 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.190056561A>G
GRCh37 chr2:g.190921287A>G
gnomAD v2:
2:190921287 A / G
gnomAD v3:
2:190056561 A / G
gnomAD v4:
chr2-190056561-A-G
Joint Max Group AF 0.0000226 (AMR)
Genomes Max Group AF 0.0000226 (AMR)
ClinVar RCV:
RCV000398220
ClinVar Variation:
333224
dbSNP:
186458339
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190056561A>G , CM000664.2:g.190056561A>G GRCh38
NC_000002.11:g.190921287A>G , CM000664.1:g.190921287A>G GRCh37
NC_000002.10:g.190629532A>G NCBI36
NG_009800.1:g.11169T>C , LRG_200:g.11169T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000260950.5:c.*697T>C (MSTN) MANE Select ENSP00000260950.3:n.*697T>C
ENST00000260950.4:c.*697T>C (MSTN) ENSP00000260950.3:n.*697T>C
ENST00000478197.1:n.220-22662A>G (C2orf88)
ENST00000495546.1:n.202-23393A>G (C2orf88)
NM_005259.2:c.*697T>C , LRG_200t1:c.*697T>C (MSTN) NP_005250.1:n.*697T>C
XM_005246905.1:c.-359-23393A>G (C2orf88) XP_005246962.1:n.-359-23393A>G
XM_011510958.1:c.*697T>C (MSTN) XP_011509260.1:n.*697T>C
XM_011511982.1:c.-433-23393A>G (C2orf88) XP_011510284.1:n.-433-23393A>G
XM_011511986.1:c.-234-23393A>G (C2orf88) XP_011510288.1:n.-234-23393A>G
XM_011511986.2:c.-234-23393A>G (C2orf88) XP_011510288.1:n.-234-23393A>G
NM_005259.3:c.*697T>C (MSTN) MANE Select NP_005250.1:n.*697T>C
Search 100 bp 5'
Search 100 bp 3'