Canonical Allele Identifier: CA503248523

Gene: MC2R

Linked Data

• MyVariant Identifiers: chr18:g.13885182G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885183G>T , CM000680.2:g.13885183G>T	GRCh38
NC_000018.9:g.13885182G>T , CM000680.1:g.13885182G>T	GRCh37
NC_000018.8:g.13875182G>T	NCBI36
NG_011819.1:g.35354C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.336C>A MANE Select	ENSP00000333821.2:p.Leu112=
ENST00000327606.3:c.336C>A	ENSP00000333821.2:p.Leu112=
ENST00000399821.2:c.336C>A	ENSP00000382718.2:p.Leu112=
NM_000529.2:c.336C>A MANE Select	NP_000520.1:p.Leu112=
NM_001291911.1:c.336C>A	NP_001278840.1:p.Leu112=
XM_017025781.1:c.336C>A	XP_016881270.1:p.Leu112=