Canonical Allele Identifier: CA349991823

Gene: MSTN C2orf88

Linked Data

• dbSNP Id: rs1685560597
• gnomAD v4: 2-190060406-G-C
• MyVariant Identifiers: chr2:g.190925132G>C (hg19) ; chr2:g.190060406G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190060406G>C , CM000664.2:g.190060406G>C	GRCh38
NC_000002.11:g.190925132G>C , CM000664.1:g.190925132G>C	GRCh37
NC_000002.10:g.190633377G>C	NCBI36
NG_009800.1:g.7324C>G , LRG_200:g.7324C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260950.5:c.403C>G (MSTN) MANE Select	ENSP00000260950.3:p.Pro135Ala
ENST00000260950.4:c.403C>G (MSTN)	ENSP00000260950.3:p.Pro135Ala
ENST00000478197.1:n.220-18817G>C (C2orf88)
ENST00000495546.1:n.202-19548G>C (C2orf88)
NM_005259.2:c.403C>G , LRG_200t1:c.403C>G (MSTN)	NP_005250.1:p.Pro135Ala
XM_005246905.1:c.-359-19548G>C (C2orf88)	XP_005246962.1:n.-359-19548G>C
XM_011510958.1:c.19C>G (MSTN)	XP_011509260.1:p.Pro7Ala
XM_011511982.1:c.-433-19548G>C (C2orf88)	XP_011510284.1:n.-433-19548G>C
XM_011511986.1:c.-234-19548G>C (C2orf88)	XP_011510288.1:n.-234-19548G>C
XM_011511986.2:c.-234-19548G>C (C2orf88)	XP_011510288.1:n.-234-19548G>C
NM_005259.3:c.403C>G (MSTN) MANE Select	NP_005250.1:p.Pro135Ala