Canonical Allele Identifier: CA2027113

Gene: MSTN C2orf88

Linked Data

• ClinVar Variation Id: 898475
• ClinVar RCV Id: RCV001142349
• dbSNP Id: rs749141789
• ExAC: 2:190924988 C / G
• gnomAD v2: 2-190924988-C-G
• gnomAD v4: 2-190060262-C-G
• MyVariant Identifiers: chr2:g.190924988C>G (hg19) ; chr2:g.190060262C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190060262C>G , CM000664.2:g.190060262C>G	GRCh38
NC_000002.11:g.190924988C>G , CM000664.1:g.190924988C>G	GRCh37
NC_000002.10:g.190633233C>G	NCBI36
NG_009800.1:g.7468G>C , LRG_200:g.7468G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260950.5:c.547G>C (MSTN) MANE Select	ENSP00000260950.3:p.Gly183Arg
ENST00000260950.4:c.547G>C (MSTN)	ENSP00000260950.3:p.Gly183Arg
ENST00000478197.1:n.220-18961C>G (C2orf88)
ENST00000495546.1:n.202-19692C>G (C2orf88)
NM_005259.2:c.547G>C , LRG_200t1:c.547G>C (MSTN)	NP_005250.1:p.Gly183Arg
XM_005246905.1:c.-359-19692C>G (C2orf88)	XP_005246962.1:n.-359-19692C>G
XM_011510958.1:c.163G>C (MSTN)	XP_011509260.1:p.Gly55Arg
XM_011511982.1:c.-433-19692C>G (C2orf88)	XP_011510284.1:n.-433-19692C>G
XM_011511986.1:c.-234-19692C>G (C2orf88)	XP_011510288.1:n.-234-19692C>G
XM_011511986.2:c.-234-19692C>G (C2orf88)	XP_011510288.1:n.-234-19692C>G
NM_005259.3:c.547G>C (MSTN) MANE Select	NP_005250.1:p.Gly183Arg