Canonical Allele Identifier: CA2027111

Gene: MSTN C2orf88

Linked Data

• ClinVar Variation Id: 333237
• ClinVar RCV Id: RCV000319193
• dbSNP Id: rs369290669
• ExAC: 2:190924984 G / A
• gnomAD v2: 2-190924984-G-A
• gnomAD v3: 2-190060258-G-A
• gnomAD v4: 2-190060258-G-A
• MyVariant Identifiers: chr2:g.190924984G>A (hg19) ; chr2:g.190060258G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190060258G>A , CM000664.2:g.190060258G>A	GRCh38
NC_000002.11:g.190924984G>A , CM000664.1:g.190924984G>A	GRCh37
NC_000002.10:g.190633229G>A	NCBI36
NG_009800.1:g.7472C>T , LRG_200:g.7472C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260950.5:c.551C>T (MSTN) MANE Select	ENSP00000260950.3:p.Thr184Ile
ENST00000260950.4:c.551C>T (MSTN)	ENSP00000260950.3:p.Thr184Ile
ENST00000478197.1:n.220-18965G>A (C2orf88)
ENST00000495546.1:n.202-19696G>A (C2orf88)
NM_005259.2:c.551C>T , LRG_200t1:c.551C>T (MSTN)	NP_005250.1:p.Thr184Ile
XM_005246905.1:c.-359-19696G>A (C2orf88)	XP_005246962.1:n.-359-19696G>A
XM_011510958.1:c.167C>T (MSTN)	XP_011509260.1:p.Thr56Ile
XM_011511982.1:c.-433-19696G>A (C2orf88)	XP_011510284.1:n.-433-19696G>A
XM_011511986.1:c.-234-19696G>A (C2orf88)	XP_011510288.1:n.-234-19696G>A
XM_011511986.2:c.-234-19696G>A (C2orf88)	XP_011510288.1:n.-234-19696G>A
NM_005259.3:c.551C>T (MSTN) MANE Select	NP_005250.1:p.Thr184Ile