Canonical Allele Identifier: CA2641150640
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884434-T-G
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884434T>G , CM000680.2:g.13884434T>G GRCh38
NC_000018.9:g.13884433T>G , CM000680.1:g.13884433T>G GRCh37
NC_000018.8:g.13874433T>G NCBI36
NG_011819.1:g.36103A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*191A>C MANE Select ENSP00000333821.2:n.*191A>C
ENST00000327606.3:c.*191A>C ENSP00000333821.2:n.*191A>C
NM_000529.2:c.*191A>C MANE Select NP_000520.1:n.*191A>C
NM_001291911.1:c.*191A>C NP_001278840.1:n.*191A>C
XM_017025781.1:c.*191A>C XP_016881270.1:n.*191A>C
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