Canonical Allele Identifier: CA296828433
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs543319373
gnomAD v3: 18-13884542-C-T
gnomAD v4: 18-13884542-C-T
MyVariant Identifiers: chr18:g.13884541C>T (hg19) chr18:g.13884542C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884542C>T , CM000680.2:g.13884542C>T GRCh38
NC_000018.9:g.13884541C>T , CM000680.1:g.13884541C>T GRCh37
NC_000018.8:g.13874541C>T NCBI36
NG_011819.1:g.35995G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*83G>A MANE Select ENSP00000333821.2:n.*83G>A
ENST00000327606.3:c.*83G>A ENSP00000333821.2:n.*83G>A
NM_000529.2:c.*83G>A MANE Select NP_000520.1:n.*83G>A
NM_001291911.1:c.*83G>A NP_001278840.1:n.*83G>A
XM_017025781.1:c.*83G>A XP_016881270.1:n.*83G>A
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