Canonical Allele Identifier: CA10641106
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 326155
ClinVar RCV Id: RCV000260821
dbSNP Id: rs886053632
MyVariant Identifiers: chr18:g.13883612A>T (hg19) chr18:g.13883613A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13883613A>T , CM000680.2:g.13883613A>T GRCh38
NC_000018.9:g.13883612A>T , CM000680.1:g.13883612A>T GRCh37
NC_000018.8:g.13873612A>T NCBI36
NG_011819.1:g.36924T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.*1012T>A MANE Select ENSP00000333821.2:n.*1012T>A
ENST00000327606.3:c.*1012T>A ENSP00000333821.2:n.*1012T>A
NM_000529.2:c.*1012T>A MANE Select NP_000520.1:n.*1012T>A
NM_001291911.1:c.*1012T>A NP_001278840.1:n.*1012T>A
XM_017025781.1:c.*1012T>A XP_016881270.1:n.*1012T>A
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