Canonical Allele Identifier: CA988025220
Gene: MC2R HGNC NCBI

Linked Data

gnomAD v3: 18-13884925-C-CG
gnomAD v4: 18-13884925-C-CG
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13884925_13884926insG , CM000680.2:g.13884925_13884926insG GRCh38
NC_000018.9:g.13884924_13884925insG , CM000680.1:g.13884924_13884925insG GRCh37
NC_000018.8:g.13874924_13874925insG NCBI36
NG_011819.1:g.35611_35612insC

Transcript Alleles

HGVS Amino-acid change
ENST00000327606.4:c.593_594insC MANE Select ENSP00000333821.2:p.Leu199AlafsTer?
ENST00000327606.3:c.593_594insC ENSP00000333821.2:p.Leu199AlafsTer?
NM_000529.2:c.593_594insC MANE Select NP_000520.1:p.Leu199AlafsTer?
NM_001291911.1:c.593_594insC NP_001278840.1:p.Leu199AlafsTer?
XM_017025781.1:c.593_594insC XP_016881270.1:p.Leu199AlafsTer?
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