Canonical Allele Identifier: CA2027093

Gene: MSTN C2orf88

Linked Data

• dbSNP Id: rs750779494
• ExAC: 2:190924862 T / C
• gnomAD v2: 2-190924862-T-C
• gnomAD v4: 2-190060136-T-C
• MyVariant Identifiers: chr2:g.190924862T>C (hg19) ; chr2:g.190060136T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190060136T>C , CM000664.2:g.190060136T>C	GRCh38
NC_000002.11:g.190924862T>C , CM000664.1:g.190924862T>C	GRCh37
NC_000002.10:g.190633107T>C	NCBI36
NG_009800.1:g.7594A>G , LRG_200:g.7594A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260950.5:c.673A>G (MSTN) MANE Select	ENSP00000260950.3:p.Ile225Val
ENST00000260950.4:c.673A>G (MSTN)	ENSP00000260950.3:p.Ile225Val
ENST00000478197.1:n.220-19087T>C (C2orf88)
ENST00000495546.1:n.202-19818T>C (C2orf88)
NM_005259.2:c.673A>G , LRG_200t1:c.673A>G (MSTN)	NP_005250.1:p.Ile225Val
XM_005246905.1:c.-359-19818T>C (C2orf88)	XP_005246962.1:n.-359-19818T>C
XM_011510958.1:c.289A>G (MSTN)	XP_011509260.1:p.Ile97Val
XM_011511982.1:c.-433-19818T>C (C2orf88)	XP_011510284.1:n.-433-19818T>C
XM_011511986.1:c.-234-19818T>C (C2orf88)	XP_011510288.1:n.-234-19818T>C
XM_011511986.2:c.-234-19818T>C (C2orf88)	XP_011510288.1:n.-234-19818T>C
NM_005259.3:c.673A>G (MSTN) MANE Select	NP_005250.1:p.Ile225Val