Canonical Allele Identifier: CA2641150720
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884530-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884530G>T , CM000680.2:g.13884530G>T GRCh38
NC_000018.9:g.13884529G>T , CM000680.1:g.13884529G>T GRCh37
NC_000018.8:g.13874529G>T NCBI36
NG_011819.1:g.36007C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*95C>A MANE Select ENSP00000333821.2:n.*95C>A
ENST00000327606.3:c.*95C>A ENSP00000333821.2:n.*95C>A
NM_000529.2:c.*95C>A MANE Select NP_000520.1:n.*95C>A
NM_001291911.1:c.*95C>A NP_001278840.1:n.*95C>A
XM_017025781.1:c.*95C>A XP_016881270.1:n.*95C>A
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