Canonical Allele Identifier: CA349991342

Gene: MSTN C2orf88

Linked Data

• MyVariant Identifiers: chr2:g.190924913C>A (hg19) ; chr2:g.190060187C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190060187C>A , CM000664.2:g.190060187C>A	GRCh38
NC_000002.11:g.190924913C>A , CM000664.1:g.190924913C>A	GRCh37
NC_000002.10:g.190633158C>A	NCBI36
NG_009800.1:g.7543G>T , LRG_200:g.7543G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260950.5:c.622G>T (MSTN) MANE Select	ENSP00000260950.3:p.Val208Leu
ENST00000260950.4:c.622G>T (MSTN)	ENSP00000260950.3:p.Val208Leu
ENST00000478197.1:n.220-19036C>A (C2orf88)
ENST00000495546.1:n.202-19767C>A (C2orf88)
NM_005259.2:c.622G>T , LRG_200t1:c.622G>T (MSTN)	NP_005250.1:p.Val208Leu
XM_005246905.1:c.-359-19767C>A (C2orf88)	XP_005246962.1:n.-359-19767C>A
XM_011510958.1:c.238G>T (MSTN)	XP_011509260.1:p.Val80Leu
XM_011511982.1:c.-433-19767C>A (C2orf88)	XP_011510284.1:n.-433-19767C>A
XM_011511986.1:c.-234-19767C>A (C2orf88)	XP_011510288.1:n.-234-19767C>A
XM_011511986.2:c.-234-19767C>A (C2orf88)	XP_011510288.1:n.-234-19767C>A
NM_005259.3:c.622G>T (MSTN) MANE Select	NP_005250.1:p.Val208Leu