Canonical Allele Identifier: CA8902502
Gene: MC2R HGNC NCBI

Linked Data

dbSNP Id: rs774181947
ExAC: 18:13885148 TCA / T
gnomAD v2: 18-13885148-TCA-T
gnomAD v4: 18-13885149-TCA-T
MyVariant Identifiers: chr18:g.13885149_13885150del (hg19) chr18:g.13885151_13885152del (hg38) chr18:g.13885150_13885151del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.13885152_13885153del , CM000680.2:g.13885152_13885153del GRCh38
NC_000018.9:g.13885151_13885152del , CM000680.1:g.13885151_13885152del GRCh37
NC_000018.8:g.13875151_13875152del NCBI36
NG_011819.1:g.35386_35387del

Transcript Alleles

HGVS Amino-acid Change
ENST00000327606.4:c.368_369del MANE Select ENSP00000333821.2:p.Val123AspfsTer?
ENST00000327606.3:c.368_369del ENSP00000333821.2:p.Val123AspfsTer?
ENST00000399821.2:c.368_369del ENSP00000382718.2:p.Val123=
NM_000529.2:c.368_369del MANE Select NP_000520.1:p.Val123AspfsTer?
NM_001291911.1:c.368_369del NP_001278840.1:p.Val123AspfsTer?
XM_017025781.1:c.368_369del XP_016881270.1:p.Val123AspfsTer?
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