Canonical Allele Identifier: CA776350479
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs969154261
gnomAD v3: 18-13884378-T-A
gnomAD v4: 18-13884378-T-A
MyVariant Identifiers: chr18:g.13884377T>A (hg19) chr18:g.13884378T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884378T>A , CM000680.2:g.13884378T>A GRCh38
NC_000018.9:g.13884377T>A , CM000680.1:g.13884377T>A GRCh37
NC_000018.8:g.13874377T>A NCBI36
NG_011819.1:g.36159A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*247A>T MANE Select ENSP00000333821.2:n.*247A>T
ENST00000327606.3:c.*247A>T ENSP00000333821.2:n.*247A>T
NM_000529.2:c.*247A>T MANE Select NP_000520.1:n.*247A>T
NM_001291911.1:c.*247A>T NP_001278840.1:n.*247A>T
XM_017025781.1:c.*247A>T XP_016881270.1:n.*247A>T
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