Canonical Allele Identifier: CA401995382

Gene: MC2R

Linked Data

• MyVariant Identifiers: chr18:g.13885145C>G (hg19) ; chr18:g.13885146C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885146C>G , CM000680.2:g.13885146C>G	GRCh38
NC_000018.9:g.13885145C>G , CM000680.1:g.13885145C>G	GRCh37
NC_000018.8:g.13875145C>G	NCBI36
NG_011819.1:g.35391G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000327606.4:c.373G>C MANE Select	ENSP00000333821.2:p.Ala125Pro
ENST00000327606.3:c.373G>C	ENSP00000333821.2:p.Ala125Pro
NM_000529.2:c.373G>C MANE Select	NP_000520.1:p.Ala125Pro
NM_001291911.1:c.373G>C	NP_001278840.1:p.Ala125Pro
XM_017025781.1:c.373G>C	XP_016881270.1:p.Ala125Pro