Canonical Allele Identifier: CA10613538

Gene: MSTN C2orf88

Linked Data

• ClinVar Variation Id: 333215
• ClinVar RCV Id: RCV000385328
• dbSNP Id: rs12105165
• gnomAD v2: 2-190920470-G-C
• gnomAD v3: 2-190055744-G-C
• gnomAD v4: 2-190055744-G-C
• MyVariant Identifiers: chr2:g.190920470G>C (hg19) ; chr2:g.190055744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.190055744G>C , CM000664.2:g.190055744G>C	GRCh38
NC_000002.11:g.190920470G>C , CM000664.1:g.190920470G>C	GRCh37
NC_000002.10:g.190628715G>C	NCBI36
NG_009800.1:g.11986C>G , LRG_200:g.11986C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000260950.5:c.*1514C>G (MSTN) MANE Select	ENSP00000260950.3:n.*1514C>G
ENST00000260950.4:c.*1514C>G (MSTN)	ENSP00000260950.3:n.*1514C>G
ENST00000478197.1:n.220-23479G>C (C2orf88)
ENST00000495546.1:n.202-24210G>C (C2orf88)
NM_005259.2:c.*1514C>G , LRG_200t1:c.*1514C>G (MSTN)	NP_005250.1:n.*1514C>G
XM_005246905.1:c.-359-24210G>C (C2orf88)	XP_005246962.1:n.-359-24210G>C
XM_011511982.1:c.-433-24210G>C (C2orf88)	XP_011510284.1:n.-433-24210G>C
XM_011511986.1:c.-234-24210G>C (C2orf88)	XP_011510288.1:n.-234-24210G>C
XM_011511986.2:c.-234-24210G>C (C2orf88)	XP_011510288.1:n.-234-24210G>C
NM_005259.3:c.*1514C>G (MSTN) MANE Select	NP_005250.1:n.*1514C>G