Canonical Allele Identifier: CA430503351
Gene: MSTN HGNC NCBI
C2orf88 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190925022C>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190060296C>A , CM000664.2:g.190060296C>A GRCh38
NC_000002.11:g.190925022C>A , CM000664.1:g.190925022C>A GRCh37
NC_000002.10:g.190633267C>A NCBI36
NG_009800.1:g.7434G>T , LRG_200:g.7434G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260950.5:c.513G>T (MSTN) MANE Select ENSP00000260950.3:p.Val171=
ENST00000260950.4:c.513G>T (MSTN) ENSP00000260950.3:p.Val171=
ENST00000478197.1:n.220-18927C>A (C2orf88)
ENST00000495546.1:n.202-19658C>A (C2orf88)
NM_005259.2:c.513G>T , LRG_200t1:c.513G>T (MSTN) NP_005250.1:p.Val171=
XM_005246905.1:c.-359-19658C>A (C2orf88) XP_005246962.1:n.-359-19658C>A
XM_011510958.1:c.129G>T (MSTN) XP_011509260.1:p.Val43=
XM_011511982.1:c.-433-19658C>A (C2orf88) XP_011510284.1:n.-433-19658C>A
XM_011511986.1:c.-234-19658C>A (C2orf88) XP_011510288.1:n.-234-19658C>A
XM_011511986.2:c.-234-19658C>A (C2orf88) XP_011510288.1:n.-234-19658C>A
NM_005259.3:c.513G>T (MSTN) MANE Select NP_005250.1:p.Val171=