Canonical Allele Identifier: CA628496349
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs760182439
gnomAD v2: 18-13884592-C-G
gnomAD v3: 18-13884593-C-G
gnomAD v4: 18-13884593-C-G
MyVariant Identifiers: chr18:g.13884592C>G (hg19) chr18:g.13884593C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884593C>G , CM000680.2:g.13884593C>G GRCh38
NC_000018.9:g.13884592C>G , CM000680.1:g.13884592C>G GRCh37
NC_000018.8:g.13874592C>G NCBI36
NG_011819.1:g.35944G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.*32G>C MANE Select ENSP00000333821.2:n.*32G>C
ENST00000327606.3:c.*32G>C ENSP00000333821.2:n.*32G>C
NM_000529.2:c.*32G>C MANE Select NP_000520.1:n.*32G>C
NM_001291911.1:c.*32G>C NP_001278840.1:n.*32G>C
XM_017025781.1:c.*32G>C XP_016881270.1:n.*32G>C
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