Canonical Allele Identifier: CA430503305
Gene: MSTN HGNC NCBI
C2orf88 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190925016G>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190060290G>T , CM000664.2:g.190060290G>T GRCh38
NC_000002.11:g.190925016G>T , CM000664.1:g.190925016G>T GRCh37
NC_000002.10:g.190633261G>T NCBI36
NG_009800.1:g.7440C>A , LRG_200:g.7440C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000260950.5:c.519C>A (MSTN) MANE Select ENSP00000260950.3:p.Ile173=
ENST00000260950.4:c.519C>A (MSTN) ENSP00000260950.3:p.Ile173=
ENST00000478197.1:n.220-18933G>T (C2orf88)
ENST00000495546.1:n.202-19664G>T (C2orf88)
NM_005259.2:c.519C>A , LRG_200t1:c.519C>A (MSTN) NP_005250.1:p.Ile173=
XM_005246905.1:c.-359-19664G>T (C2orf88) XP_005246962.1:n.-359-19664G>T
XM_011510958.1:c.135C>A (MSTN) XP_011509260.1:p.Ile45=
XM_011511982.1:c.-433-19664G>T (C2orf88) XP_011510284.1:n.-433-19664G>T
XM_011511986.1:c.-234-19664G>T (C2orf88) XP_011510288.1:n.-234-19664G>T
XM_011511986.2:c.-234-19664G>T (C2orf88) XP_011510288.1:n.-234-19664G>T
NM_005259.3:c.519C>A (MSTN) MANE Select NP_005250.1:p.Ile173=