Canonical Allele Identifier: CA8902492
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 2620870
ClinVar RCV Id: RCV003379846
dbSNP Id: rs764887426
ExAC: 18:13885115 C / A
gnomAD v2: 18-13885115-C-A
gnomAD v4: 18-13885116-C-A
COSMIC: COSM390535
MyVariant Identifiers: chr18:g.13885115C>A (hg19) chr18:g.13885116C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885116C>A , CM000680.2:g.13885116C>A GRCh38
NC_000018.9:g.13885115C>A , CM000680.1:g.13885115C>A GRCh37
NC_000018.8:g.13875115C>A NCBI36
NG_011819.1:g.35421G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.403G>T MANE Select ENSP00000333821.2:p.Ala135Ser
ENST00000327606.3:c.403G>T ENSP00000333821.2:p.Ala135Ser
NM_000529.2:c.403G>T MANE Select NP_000520.1:p.Ala135Ser
NM_001291911.1:c.403G>T NP_001278840.1:p.Ala135Ser
XM_017025781.1:c.403G>T XP_016881270.1:p.Ala135Ser
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