Canonical Allele Identifier: CA401994830

Gene: MC2R

Linked Data

• MyVariant Identifiers: chr18:g.13884937A>T (hg19) ; chr18:g.13884938A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884938A>T , CM000680.2:g.13884938A>T	GRCh38
NC_000018.9:g.13884937A>T , CM000680.1:g.13884937A>T	GRCh37
NC_000018.8:g.13874937A>T	NCBI36
NG_011819.1:g.35599T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.581T>A MANE Select	ENSP00000333821.2:p.Val194Glu
ENST00000327606.3:c.581T>A	ENSP00000333821.2:p.Val194Glu
NM_000529.2:c.581T>A MANE Select	NP_000520.1:p.Val194Glu
NM_001291911.1:c.581T>A	NP_001278840.1:p.Val194Glu
XM_017025781.1:c.581T>A	XP_016881270.1:p.Val194Glu