Canonical Allele Identifier: CA401996117

Gene: MC2R

Linked Data

• gnomAD v4: 18-13885487-A-T
• MyVariant Identifiers: chr18:g.13885486A>T (hg19) ; chr18:g.13885487A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000018.10:g.13885487A>T , CM000680.2:g.13885487A>T	GRCh38
NC_000018.9:g.13885486A>T , CM000680.1:g.13885486A>T	GRCh37
NC_000018.8:g.13875486A>T	NCBI36
NG_011819.1:g.35050T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000327606.4:c.32T>A MANE Select	ENSP00000333821.2:p.Ile11Asn
ENST00000327606.3:c.32T>A	ENSP00000333821.2:p.Ile11Asn
ENST00000399821.2:c.32T>A	ENSP00000382718.2:p.Ile11Asn
NM_000529.2:c.32T>A MANE Select	NP_000520.1:p.Ile11Asn
NM_001291911.1:c.32T>A	NP_001278840.1:p.Ile11Asn
XM_017025781.1:c.32T>A	XP_016881270.1:p.Ile11Asn