Canonical Allele Identifier: CA401995373

Gene: MC2R

Linked Data

• MyVariant Identifiers: chr18:g.13885139C>G (hg19) ; chr18:g.13885140C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885140C>G , CM000680.2:g.13885140C>G	GRCh38
NC_000018.9:g.13885139C>G , CM000680.1:g.13885139C>G	GRCh37
NC_000018.8:g.13875139C>G	NCBI36
NG_011819.1:g.35397G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327606.4:c.379G>C MANE Select	ENSP00000333821.2:p.Asp127His
ENST00000327606.3:c.379G>C	ENSP00000333821.2:p.Asp127His
NM_000529.2:c.379G>C MANE Select	NP_000520.1:p.Asp127His
NM_001291911.1:c.379G>C	NP_001278840.1:p.Asp127His
XM_017025781.1:c.379G>C	XP_016881270.1:p.Asp127His