Canonical Allele Identifier: CA296828643
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs983223006
gnomAD v3: 18-13884832-G-A
gnomAD v4: 18-13884832-G-A
MyVariant Identifiers: chr18:g.13884831G>A (hg19) chr18:g.13884832G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884832G>A , CM000680.2:g.13884832G>A GRCh38
NC_000018.9:g.13884831G>A , CM000680.1:g.13884831G>A GRCh37
NC_000018.8:g.13874831G>A NCBI36
NG_011819.1:g.35705C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.687C>T MANE Select ENSP00000333821.2:p.Ile229=
ENST00000327606.3:c.687C>T ENSP00000333821.2:p.Ile229=
NM_000529.2:c.687C>T MANE Select NP_000520.1:p.Ile229=
NM_001291911.1:c.687C>T NP_001278840.1:p.Ile229=
XM_017025781.1:c.687C>T XP_016881270.1:p.Ile229=
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