Canonical Allele Identifier: CA349991850

Gene: MSTN C2orf88

Linked Data

• gnomAD v4: 2-190060418-C-T
• MyVariant Identifiers: chr2:g.190925144C>T (hg19) ; chr2:g.190060418C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190060418C>T , CM000664.2:g.190060418C>T	GRCh38
NC_000002.11:g.190925144C>T , CM000664.1:g.190925144C>T	GRCh37
NC_000002.10:g.190633389C>T	NCBI36
NG_009800.1:g.7312G>A , LRG_200:g.7312G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260950.5:c.391G>A (MSTN) MANE Select	ENSP00000260950.3:p.Val131Met
ENST00000260950.4:c.391G>A (MSTN)	ENSP00000260950.3:p.Val131Met
ENST00000478197.1:n.220-18805C>T (C2orf88)
ENST00000495546.1:n.202-19536C>T (C2orf88)
NM_005259.2:c.391G>A , LRG_200t1:c.391G>A (MSTN)	NP_005250.1:p.Val131Met
XM_005246905.1:c.-359-19536C>T (C2orf88)	XP_005246962.1:n.-359-19536C>T
XM_011510958.1:c.7G>A (MSTN)	XP_011509260.1:p.Val3Met
XM_011511982.1:c.-433-19536C>T (C2orf88)	XP_011510284.1:n.-433-19536C>T
XM_011511986.1:c.-234-19536C>T (C2orf88)	XP_011510288.1:n.-234-19536C>T
XM_011511986.2:c.-234-19536C>T (C2orf88)	XP_011510288.1:n.-234-19536C>T
NM_005259.3:c.391G>A (MSTN) MANE Select	NP_005250.1:p.Val131Met