Canonical Allele Identifier: CA401993572

Gene: MC2R

Linked Data

• MyVariant Identifiers: chr18:g.13884647T>A (hg19) ; chr18:g.13884648T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884648T>A , CM000680.2:g.13884648T>A	GRCh38
NC_000018.9:g.13884647T>A , CM000680.1:g.13884647T>A	GRCh37
NC_000018.8:g.13874647T>A	NCBI36
NG_011819.1:g.35889A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.871A>T MANE Select	ENSP00000333821.2:p.Ile291Phe
ENST00000327606.3:c.871A>T	ENSP00000333821.2:p.Ile291Phe
NM_000529.2:c.871A>T MANE Select	NP_000520.1:p.Ile291Phe
NM_001291911.1:c.871A>T	NP_001278840.1:p.Ile291Phe
XM_017025781.1:c.871A>T	XP_016881270.1:p.Ile291Phe