Canonical Allele Identifier: CA628624561
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs564058166
gnomAD v2: 18-13885539-C-G
gnomAD v4: 18-13885540-C-G
MyVariant Identifiers: chr18:g.13885539C>G (hg19) chr18:g.13885540C>G (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885540C>G , CM000680.2:g.13885540C>G GRCh38
NC_000018.9:g.13885539C>G , CM000680.1:g.13885539C>G GRCh37
NC_000018.8:g.13875539C>G NCBI36
NG_011819.1:g.34997G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.-22G>C MANE Select ENSP00000333821.2:n.-22G>C
ENST00000327606.3:c.-22G>C ENSP00000333821.2:n.-22G>C
ENST00000399821.2:c.-22G>C ENSP00000382718.2:n.-22G>C
NM_000529.2:c.-22G>C MANE Select NP_000520.1:n.-22G>C
NM_001291911.1:c.-22G>C NP_001278840.1:n.-22G>C
XM_017025781.1:c.-22G>C XP_016881270.1:n.-22G>C
Search 100 bp 5'
Search 100 bp 3'