Canonical Allele Identifier: CA349991473

Gene: MSTN C2orf88

Linked Data

• gnomAD v4: 2-190060247-C-T
• MyVariant Identifiers: chr2:g.190924973C>T (hg19) ; chr2:g.190060247C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190060247C>T , CM000664.2:g.190060247C>T	GRCh38
NC_000002.11:g.190924973C>T , CM000664.1:g.190924973C>T	GRCh37
NC_000002.10:g.190633218C>T	NCBI36
NG_009800.1:g.7483G>A , LRG_200:g.7483G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260950.5:c.562G>A (MSTN) MANE Select	ENSP00000260950.3:p.Gly188Arg
ENST00000260950.4:c.562G>A (MSTN)	ENSP00000260950.3:p.Gly188Arg
ENST00000478197.1:n.220-18976C>T (C2orf88)
ENST00000495546.1:n.202-19707C>T (C2orf88)
NM_005259.2:c.562G>A , LRG_200t1:c.562G>A (MSTN)	NP_005250.1:p.Gly188Arg
XM_005246905.1:c.-359-19707C>T (C2orf88)	XP_005246962.1:n.-359-19707C>T
XM_011510958.1:c.178G>A (MSTN)	XP_011509260.1:p.Gly60Arg
XM_011511982.1:c.-433-19707C>T (C2orf88)	XP_011510284.1:n.-433-19707C>T
XM_011511986.1:c.-234-19707C>T (C2orf88)	XP_011510288.1:n.-234-19707C>T
XM_011511986.2:c.-234-19707C>T (C2orf88)	XP_011510288.1:n.-234-19707C>T
NM_005259.3:c.562G>A (MSTN) MANE Select	NP_005250.1:p.Gly188Arg