Canonical Allele Identifier: CA2641150756
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884597-T-C
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884597T>C , CM000680.2:g.13884597T>C GRCh38
NC_000018.9:g.13884596T>C , CM000680.1:g.13884596T>C GRCh37
NC_000018.8:g.13874596T>C NCBI36
NG_011819.1:g.35940A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.*28A>G MANE Select ENSP00000333821.2:n.*28A>G
ENST00000327606.3:c.*28A>G ENSP00000333821.2:n.*28A>G
NM_000529.2:c.*28A>G MANE Select NP_000520.1:n.*28A>G
NM_001291911.1:c.*28A>G NP_001278840.1:n.*28A>G
XM_017025781.1:c.*28A>G XP_016881270.1:n.*28A>G
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