Canonical Allele Identifier: CA1089240289
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs1767073293
gnomAD v3: 6-55276164-TAA-T
gnomAD v4: 6-55276164-TAA-T
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55276169_55276170del , CM000668.2:g.55276169_55276170del GRCh38
NC_000006.11:g.55140967_55140968del , CM000668.1:g.55140967_55140968del GRCh37
NC_000006.10:g.55248926_55248927del NCBI36
NG_012447.1:g.106897_106898del
NG_012447.2:g.174710_174711del

Transcript Alleles

HGVS Amino-acid change
ENST00000370862.4:c.763-1211_763-1210del MANE Select ENSP00000359899.3:n.763-1211_763-1210del
ENST00000370862.3:c.763-1211_763-1210del ENSP00000359899.3:n.763-1211_763-1210del
ENST00000615358.4:c.763-1211_763-1210del ENSP00000477548.1:n.763-1211_763-1210del
NM_001526.3:c.763-1211_763-1210del NP_001517.2:n.763-1211_763-1210del
XM_011514542.1:c.568-1211_568-1210del XP_011512844.1:n.568-1211_568-1210del
NM_001526.4:c.763-1211_763-1210del NP_001517.2:n.763-1211_763-1210del
XM_017010798.1:c.763-1211_763-1210del XP_016866287.1:n.763-1211_763-1210del
NM_001384272.1:c.763-1211_763-1210del MANE Select NP_001371201.1:n.763-1211_763-1210del
NM_001526.5:c.763-1211_763-1210del NP_001517.2:n.763-1211_763-1210del
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