Canonical Allele Identifier: CA503010677
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 3047331
ClinVar RCV Id: RCV003934691
MyVariant Identifiers: chr18:g.13884687G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884688G>T , CM000680.2:g.13884688G>T GRCh38
NC_000018.9:g.13884687G>T , CM000680.1:g.13884687G>T GRCh37
NC_000018.8:g.13874687G>T NCBI36
NG_011819.1:g.35849C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.831C>A MANE Select ENSP00000333821.2:p.Ala277=
ENST00000327606.3:c.831C>A ENSP00000333821.2:p.Ala277=
NM_000529.2:c.831C>A MANE Select NP_000520.1:p.Ala277=
NM_001291911.1:c.831C>A NP_001278840.1:p.Ala277=
XM_017025781.1:c.831C>A XP_016881270.1:p.Ala277=
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