Canonical Allele Identifier: CA2285919251

Gene: MC2R

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884750G= , CM000680.2:g.13884750G=	GRCh38
NC_000018.9:g.13884749G= , CM000680.1:g.13884749G=	GRCh37
NC_000018.8:g.13874749G=	NCBI36
NG_011819.1:g.35787C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.769C= MANE Select	ENSP00000333821.2:p.Leu257=
ENST00000327606.3:c.769C=	ENSP00000333821.2:p.Leu257=
NM_000529.2:c.769C= MANE Select	NP_000520.1:p.Leu257=
NM_001291911.1:c.769C=	NP_001278840.1:p.Leu257=
XM_017025781.1:c.769C=	XP_016881270.1:p.Leu257=