Canonical Allele Identifier: CA296828839
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs267605120
gnomAD v3: 18-13885119-G-A
gnomAD v4: 18-13885119-G-A
MyVariant Identifiers: chr18:g.13885118G>A (hg19) chr18:g.13885119G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885119G>A , CM000680.2:g.13885119G>A GRCh38
NC_000018.9:g.13885118G>A , CM000680.1:g.13885118G>A GRCh37
NC_000018.8:g.13875118G>A NCBI36
NG_011819.1:g.35418C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.400C>T MANE Select ENSP00000333821.2:p.His134Tyr
ENST00000327606.3:c.400C>T ENSP00000333821.2:p.His134Tyr
NM_000529.2:c.400C>T MANE Select NP_000520.1:p.His134Tyr
NM_001291911.1:c.400C>T NP_001278840.1:p.His134Tyr
XM_017025781.1:c.400C>T XP_016881270.1:p.His134Tyr
Search 100 bp 5'
Search 100 bp 3'