Canonical Allele Identifier: CA349991493
Gene: MSTN HGNC NCBI
C2orf88 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.190924982T>A (hg19) chr2:g.190060256T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.190060256T>A , CM000664.2:g.190060256T>A GRCh38
NC_000002.11:g.190924982T>A , CM000664.1:g.190924982T>A GRCh37
NC_000002.10:g.190633227T>A NCBI36
NG_009800.1:g.7474A>T , LRG_200:g.7474A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000260950.5:c.553A>T (MSTN) MANE Select ENSP00000260950.3:p.Arg185Trp
ENST00000260950.4:c.553A>T (MSTN) ENSP00000260950.3:p.Arg185Trp
ENST00000478197.1:n.220-18967T>A (C2orf88)
ENST00000495546.1:n.202-19698T>A (C2orf88)
NM_005259.2:c.553A>T , LRG_200t1:c.553A>T (MSTN) NP_005250.1:p.Arg185Trp
XM_005246905.1:c.-359-19698T>A (C2orf88) XP_005246962.1:n.-359-19698T>A
XM_011510958.1:c.169A>T (MSTN) XP_011509260.1:p.Arg57Trp
XM_011511982.1:c.-433-19698T>A (C2orf88) XP_011510284.1:n.-433-19698T>A
XM_011511986.1:c.-234-19698T>A (C2orf88) XP_011510288.1:n.-234-19698T>A
XM_011511986.2:c.-234-19698T>A (C2orf88) XP_011510288.1:n.-234-19698T>A
NM_005259.3:c.553A>T (MSTN) MANE Select NP_005250.1:p.Arg185Trp
Search 100 bp 5'
Search 100 bp 3'