Canonical Allele Identifier: CA503248034
Gene: MC2R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.13884768G>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884769G>A , CM000680.2:g.13884769G>A GRCh38
NC_000018.9:g.13884768G>A , CM000680.1:g.13884768G>A GRCh37
NC_000018.8:g.13874768G>A NCBI36
NG_011819.1:g.35768C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.750C>T MANE Select ENSP00000333821.2:p.Tyr250=
ENST00000327606.3:c.750C>T ENSP00000333821.2:p.Tyr250=
NM_000529.2:c.750C>T MANE Select NP_000520.1:p.Tyr250=
NM_001291911.1:c.750C>T NP_001278840.1:p.Tyr250=
XM_017025781.1:c.750C>T XP_016881270.1:p.Tyr250=