Canonical Allele Identifier: CA296828361
Gene: MC2R HGNC NCBI

Linked Data

ClinVar Variation Id: 891538
ClinVar RCV Id: RCV001126888
dbSNP Id: rs369247895
gnomAD v2: 18-13884401-A-G
gnomAD v3: 18-13884402-A-G
gnomAD v4: 18-13884402-A-G
MyVariant Identifiers: chr18:g.13884401A>G (hg19) chr18:g.13884402A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884402A>G , CM000680.2:g.13884402A>G GRCh38
NC_000018.9:g.13884401A>G , CM000680.1:g.13884401A>G GRCh37
NC_000018.8:g.13874401A>G NCBI36
NG_011819.1:g.36135T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*223T>C MANE Select ENSP00000333821.2:n.*223T>C
ENST00000327606.3:c.*223T>C ENSP00000333821.2:n.*223T>C
NM_000529.2:c.*223T>C MANE Select NP_000520.1:n.*223T>C
NM_001291911.1:c.*223T>C NP_001278840.1:n.*223T>C
XM_017025781.1:c.*223T>C XP_016881270.1:n.*223T>C
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