Canonical Allele Identifier: CA401993532

Gene: MC2R

Linked Data

• MyVariant Identifiers: chr18:g.13884638T>A (hg19) ; chr18:g.13884639T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884639T>A , CM000680.2:g.13884639T>A	GRCh38
NC_000018.9:g.13884638T>A , CM000680.1:g.13884638T>A	GRCh37
NC_000018.8:g.13874638T>A	NCBI36
NG_011819.1:g.35898A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.880A>T MANE Select	ENSP00000333821.2:p.Ser294Cys
ENST00000327606.3:c.880A>T	ENSP00000333821.2:p.Ser294Cys
NM_000529.2:c.880A>T MANE Select	NP_000520.1:p.Ser294Cys
NM_001291911.1:c.880A>T	NP_001278840.1:p.Ser294Cys
XM_017025781.1:c.880A>T	XP_016881270.1:p.Ser294Cys