Canonical Allele Identifier: CA401995370

Gene: MC2R

Linked Data

• MyVariant Identifiers: chr18:g.13885138T>C (hg19) ; chr18:g.13885139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885139T>C , CM000680.2:g.13885139T>C	GRCh38
NC_000018.9:g.13885138T>C , CM000680.1:g.13885138T>C	GRCh37
NC_000018.8:g.13875138T>C	NCBI36
NG_011819.1:g.35398A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000327606.4:c.380A>G MANE Select	ENSP00000333821.2:p.Asp127Gly
ENST00000327606.3:c.380A>G	ENSP00000333821.2:p.Asp127Gly
NM_000529.2:c.380A>G MANE Select	NP_000520.1:p.Asp127Gly
NM_001291911.1:c.380A>G	NP_001278840.1:p.Asp127Gly
XM_017025781.1:c.380A>G	XP_016881270.1:p.Asp127Gly