Canonical Allele Identifier: CA401993775
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs777203436
gnomAD v3: 18-13884696-T-A
gnomAD v4: 18-13884696-T-A
MyVariant Identifiers: chr18:g.13884695T>A (hg19) chr18:g.13884696T>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884696T>A , CM000680.2:g.13884696T>A GRCh38
NC_000018.9:g.13884695T>A , CM000680.1:g.13884695T>A GRCh37
NC_000018.8:g.13874695T>A NCBI36
NG_011819.1:g.35841A>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.823A>T MANE Select ENSP00000333821.2:p.Ile275Leu
ENST00000327606.3:c.823A>T ENSP00000333821.2:p.Ile275Leu
NM_000529.2:c.823A>T MANE Select NP_000520.1:p.Ile275Leu
NM_001291911.1:c.823A>T NP_001278840.1:p.Ile275Leu
XM_017025781.1:c.823A>T XP_016881270.1:p.Ile275Leu
Search 100 bp 5'
Search 100 bp 3'