Canonical Allele Identifier: CA401993480
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884627-A-G
MyVariant Identifiers: chr18:g.13884626A>G (hg19) chr18:g.13884627A>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884627A>G , CM000680.2:g.13884627A>G GRCh38
NC_000018.9:g.13884626A>G , CM000680.1:g.13884626A>G GRCh37
NC_000018.8:g.13874626A>G NCBI36
NG_011819.1:g.35910T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.892T>C MANE Select ENSP00000333821.2:p.Ter298Gln
ENST00000327606.3:c.892T>C ENSP00000333821.2:p.Ter298Gln
NM_000529.2:c.892T>C MANE Select NP_000520.1:p.Ter298Gln
NM_001291911.1:c.892T>C NP_001278840.1:p.Ter298Gln
XM_017025781.1:c.892T>C XP_016881270.1:p.Ter298Gln
Search 100 bp 5'
Search 100 bp 3'