Canonical Allele Identifier: CA401995242
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13885074-C-G
MyVariant Identifiers: chr18:g.13885073C>G (hg19) chr18:g.13885074C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885074C>G , CM000680.2:g.13885074C>G GRCh38
NC_000018.9:g.13885073C>G , CM000680.1:g.13885073C>G GRCh37
NC_000018.8:g.13875073C>G NCBI36
NG_011819.1:g.35463G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.445G>C MANE Select ENSP00000333821.2:p.Val149Leu
ENST00000327606.3:c.445G>C ENSP00000333821.2:p.Val149Leu
NM_000529.2:c.445G>C MANE Select NP_000520.1:p.Val149Leu
NM_001291911.1:c.445G>C NP_001278840.1:p.Val149Leu
XM_017025781.1:c.445G>C XP_016881270.1:p.Val149Leu
Search 100 bp 5'
Search 100 bp 3'