Canonical Allele Identifier: CA2641150684
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v4: 18-13884497-T-TG
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884500dup , CM000680.2:g.13884500dup GRCh38
NC_000018.9:g.13884499dup , CM000680.1:g.13884499dup GRCh37
NC_000018.8:g.13874499dup NCBI36
NG_011819.1:g.36039dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.*127dup MANE Select ENSP00000333821.2:n.*127dup
ENST00000327606.3:c.*127dup ENSP00000333821.2:n.*127dup
NM_000529.2:c.*127dup MANE Select NP_000520.1:n.*127dup
NM_001291911.1:c.*127dup NP_001278840.1:n.*127dup
XM_017025781.1:c.*127dup XP_016881270.1:n.*127dup
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