Canonical Allele Identifier: CA988025348
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs2045267076
gnomAD v3: 18-13885124-AT-A
gnomAD v4: 18-13885124-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885125del , CM000680.2:g.13885125del GRCh38
NC_000018.9:g.13885124del , CM000680.1:g.13885124del GRCh37
NC_000018.8:g.13875124del NCBI36
NG_011819.1:g.35412del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.394del MANE Select ENSP00000333821.2:p.Ile132SerfsTer11
ENST00000327606.3:c.394del ENSP00000333821.2:p.Ile132SerfsTer11
NM_000529.2:c.394del MANE Select NP_000520.1:p.Ile132SerfsTer11
NM_001291911.1:c.394del NP_001278840.1:p.Ile132SerfsTer11
XM_017025781.1:c.394del XP_016881270.1:p.Ile132SerfsTer11
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