Canonical Allele Identifier: CA10650582
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 326189
ClinVar RCV Id: RCV000405683
dbSNP Id: rs4797825
gnomAD v2: 18-13884566-C-T
gnomAD v3: 18-13884567-C-T
gnomAD v4: 18-13884567-C-T
MyVariant Identifiers: chr18:g.13884566C>T (hg19) chr18:g.13884567C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884567C>T , CM000680.2:g.13884567C>T GRCh38
NC_000018.9:g.13884566C>T , CM000680.1:g.13884566C>T GRCh37
NC_000018.8:g.13874566C>T NCBI36
NG_011819.1:g.35970G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.*58G>A MANE Select ENSP00000333821.2:n.*58G>A
ENST00000327606.3:c.*58G>A ENSP00000333821.2:n.*58G>A
NM_000529.2:c.*58G>A MANE Select NP_000520.1:n.*58G>A
NM_001291911.1:c.*58G>A NP_001278840.1:n.*58G>A
XM_017025781.1:c.*58G>A XP_016881270.1:n.*58G>A
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