Canonical Allele Identifier: CA2285919254
Gene: MC2R HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884753_13884760delinsACATGTAG , CM000680.2:g.13884753_13884760delinsACATGTAG GRCh38
NC_000018.9:g.13884752_13884759delinsACATGTAG , CM000680.1:g.13884752_13884759delinsACATGTAG GRCh37
NC_000018.8:g.13874752_13874759delinsACATGTAG NCBI36
NG_011819.1:g.35777_35784delinsCTACATGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.759_766delinsCTACATGT MANE Select ENSP00000333821.2:p.Cys253=
ENST00000327606.3:c.759_766delinsCTACATGT ENSP00000333821.2:p.Cys253=
NM_000529.2:c.759_766delinsCTACATGT MANE Select NP_000520.1:p.Cys253=
NM_001291911.1:c.759_766delinsCTACATGT NP_001278840.1:p.Cys253=
XM_017025781.1:c.759_766delinsCTACATGT XP_016881270.1:p.Cys253=
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