Canonical Allele Identifier: CA401994273

Gene: MC2R

Linked Data

• MyVariant Identifiers: chr18:g.13884806G>T (hg19) ; chr18:g.13884807G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13884807G>T , CM000680.2:g.13884807G>T	GRCh38
NC_000018.9:g.13884806G>T , CM000680.1:g.13884806G>T	GRCh37
NC_000018.8:g.13874806G>T	NCBI36
NG_011819.1:g.35730C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.712C>A MANE Select	ENSP00000333821.2:p.His238Asn
ENST00000327606.3:c.712C>A	ENSP00000333821.2:p.His238Asn
NM_000529.2:c.712C>A MANE Select	NP_000520.1:p.His238Asn
NM_001291911.1:c.712C>A	NP_001278840.1:p.His238Asn
XM_017025781.1:c.712C>A	XP_016881270.1:p.His238Asn