Canonical Allele Identifier: CA503248307
Gene: MC2R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.13884879G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884880G>C , CM000680.2:g.13884880G>C GRCh38
NC_000018.9:g.13884879G>C , CM000680.1:g.13884879G>C GRCh37
NC_000018.8:g.13874879G>C NCBI36
NG_011819.1:g.35657C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.639C>G MANE Select ENSP00000333821.2:p.Ala213=
ENST00000327606.3:c.639C>G ENSP00000333821.2:p.Ala213=
NM_000529.2:c.639C>G MANE Select NP_000520.1:p.Ala213=
NM_001291911.1:c.639C>G NP_001278840.1:p.Ala213=
XM_017025781.1:c.639C>G XP_016881270.1:p.Ala213=