Canonical Allele Identifier: CA8902370
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs751689712
ExAC: 18:13884609 C / A
gnomAD v2: 18-13884609-C-A
gnomAD v3: 18-13884610-C-A
gnomAD v4: 18-13884610-C-A
MyVariant Identifiers: chr18:g.13884609C>A (hg19) chr18:g.13884610C>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884610C>A , CM000680.2:g.13884610C>A GRCh38
NC_000018.9:g.13884609C>A , CM000680.1:g.13884609C>A GRCh37
NC_000018.8:g.13874609C>A NCBI36
NG_011819.1:g.35927G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.*15G>T MANE Select ENSP00000333821.2:n.*15G>T
ENST00000327606.3:c.*15G>T ENSP00000333821.2:n.*15G>T
NM_000529.2:c.*15G>T MANE Select NP_000520.1:n.*15G>T
NM_001291911.1:c.*15G>T NP_001278840.1:n.*15G>T
XM_017025781.1:c.*15G>T XP_016881270.1:n.*15G>T
Search 100 bp 5'
Search 100 bp 3'