Canonical Allele Identifier: CA401996134
Gene: MC2R HGNC NCBI

Linked Data

MyVariant Identifiers: chr18:g.13885493C>G (hg19) chr18:g.13885494C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885494C>G , CM000680.2:g.13885494C>G GRCh38
NC_000018.9:g.13885493C>G , CM000680.1:g.13885493C>G GRCh37
NC_000018.8:g.13875493C>G NCBI36
NG_011819.1:g.35043G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.25G>C MANE Select ENSP00000333821.2:p.Glu9Gln
ENST00000327606.3:c.25G>C ENSP00000333821.2:p.Glu9Gln
ENST00000399821.2:c.25G>C ENSP00000382718.2:p.Glu9Gln
NM_000529.2:c.25G>C MANE Select NP_000520.1:p.Glu9Gln
NM_001291911.1:c.25G>C NP_001278840.1:p.Glu9Gln
XM_017025781.1:c.25G>C XP_016881270.1:p.Glu9Gln
Search 100 bp 5'
Search 100 bp 3'