Canonical Allele Identifier: CA430503258
Gene: MSTN HGNC NCBI
C2orf88 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190924974A>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190060248A>C , CM000664.2:g.190060248A>C GRCh38
NC_000002.11:g.190924974A>C , CM000664.1:g.190924974A>C GRCh37
NC_000002.10:g.190633219A>C NCBI36
NG_009800.1:g.7482T>G , LRG_200:g.7482T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000260950.5:c.561T>G (MSTN) MANE Select ENSP00000260950.3:p.Thr187=
ENST00000260950.4:c.561T>G (MSTN) ENSP00000260950.3:p.Thr187=
ENST00000478197.1:n.220-18975A>C (C2orf88)
ENST00000495546.1:n.202-19706A>C (C2orf88)
NM_005259.2:c.561T>G , LRG_200t1:c.561T>G (MSTN) NP_005250.1:p.Thr187=
XM_005246905.1:c.-359-19706A>C (C2orf88) XP_005246962.1:n.-359-19706A>C
XM_011510958.1:c.177T>G (MSTN) XP_011509260.1:p.Thr59=
XM_011511982.1:c.-433-19706A>C (C2orf88) XP_011510284.1:n.-433-19706A>C
XM_011511986.1:c.-234-19706A>C (C2orf88) XP_011510288.1:n.-234-19706A>C
XM_011511986.2:c.-234-19706A>C (C2orf88) XP_011510288.1:n.-234-19706A>C
NM_005259.3:c.561T>G (MSTN) MANE Select NP_005250.1:p.Thr187=