Canonical Allele Identifier: CA1040493174

Gene: MSTN C2orf88

Linked Data

• dbSNP Id: rs1685543178
• gnomAD v3: 2-190059861-AAAGT-A
• gnomAD v4: 2-190059861-AAAGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190059865_190059868del , CM000664.2:g.190059865_190059868del	GRCh38
NC_000002.11:g.190924591_190924594del , CM000664.1:g.190924591_190924594del	GRCh37
NC_000002.10:g.190632836_190632839del	NCBI36
NG_009800.1:g.7865_7868del , LRG_200:g.7865_7868del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260950.5:c.747+197_747+200del (MSTN) MANE Select	ENSP00000260950.3:n.747+197_747+200del
ENST00000260950.4:c.747+197_747+200del (MSTN)	ENSP00000260950.3:n.747+197_747+200del
ENST00000478197.1:n.220-19358_220-19355del (C2orf88)
ENST00000495546.1:n.202-20089_202-20086del (C2orf88)
NM_005259.2:c.747+197_747+200del , LRG_200t1:c.747+197_747+200del (MSTN)	NP_005250.1:n.747+197_747+200del
XM_005246905.1:c.-359-20089_-359-20086del (C2orf88)	XP_005246962.1:n.-359-20089_-359-20086del
XM_011510958.1:c.363+197_363+200del (MSTN)	XP_011509260.1:n.363+197_363+200del
XM_011511982.1:c.-433-20089_-433-20086del (C2orf88)	XP_011510284.1:n.-433-20089_-433-20086del
XM_011511986.1:c.-234-20089_-234-20086del (C2orf88)	XP_011510288.1:n.-234-20089_-234-20086del
XM_011511986.2:c.-234-20089_-234-20086del (C2orf88)	XP_011510288.1:n.-234-20089_-234-20086del
NM_005259.3:c.747+197_747+200del (MSTN) MANE Select	NP_005250.1:n.747+197_747+200del