Canonical Allele Identifier: CA401993794
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 2498736
ClinVar RCV Id: RCV003222945
MyVariant Identifiers: chr18:g.13884701G>A (hg19) chr18:g.13884702G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884702G>A , CM000680.2:g.13884702G>A GRCh38
NC_000018.9:g.13884701G>A , CM000680.1:g.13884701G>A GRCh37
NC_000018.8:g.13874701G>A NCBI36
NG_011819.1:g.35835C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.817C>T MANE Select ENSP00000333821.2:p.Pro273Ser
ENST00000327606.3:c.817C>T ENSP00000333821.2:p.Pro273Ser
NM_000529.2:c.817C>T MANE Select NP_000520.1:p.Pro273Ser
NM_001291911.1:c.817C>T NP_001278840.1:p.Pro273Ser
XM_017025781.1:c.817C>T XP_016881270.1:p.Pro273Ser
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