Canonical Allele Identifier: CA2641150671
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884482-A-T
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884482A>T , CM000680.2:g.13884482A>T GRCh38
NC_000018.9:g.13884481A>T , CM000680.1:g.13884481A>T GRCh37
NC_000018.8:g.13874481A>T NCBI36
NG_011819.1:g.36055T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*143T>A MANE Select ENSP00000333821.2:n.*143T>A
ENST00000327606.3:c.*143T>A ENSP00000333821.2:n.*143T>A
NM_000529.2:c.*143T>A MANE Select NP_000520.1:n.*143T>A
NM_001291911.1:c.*143T>A NP_001278840.1:n.*143T>A
XM_017025781.1:c.*143T>A XP_016881270.1:n.*143T>A
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