Canonical Allele Identifier: CA401994810
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs2045264906

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884933T>G , CM000680.2:g.13884933T>G GRCh38
NC_000018.9:g.13884932T>G , CM000680.1:g.13884932T>G GRCh37
NC_000018.8:g.13874932T>G NCBI36
NG_011819.1:g.35604A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.586A>C MANE Select ENSP00000333821.2:p.Met196Leu
ENST00000327606.3:c.586A>C ENSP00000333821.2:p.Met196Leu
NM_000529.2:c.586A>C MANE Select NP_000520.1:p.Met196Leu
NM_001291911.1:c.586A>C NP_001278840.1:p.Met196Leu
XM_017025781.1:c.586A>C XP_016881270.1:p.Met196Leu