Canonical Allele Identifier: CA1089240340
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs1767074773
gnomAD v3: 6-55276257-C-A
gnomAD v4: 6-55276257-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55276257C>A , CM000668.2:g.55276257C>A GRCh38
NC_000006.11:g.55141055C>A , CM000668.1:g.55141055C>A GRCh37
NC_000006.10:g.55249014C>A NCBI36
NG_012447.1:g.106985C>A
NG_012447.2:g.174798C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370862.4:c.763-1123C>A MANE Select ENSP00000359899.3:n.763-1123C>A
ENST00000370862.3:c.763-1123C>A ENSP00000359899.3:n.763-1123C>A
ENST00000615358.4:c.763-1123C>A ENSP00000477548.1:n.763-1123C>A
NM_001526.3:c.763-1123C>A NP_001517.2:n.763-1123C>A
XM_011514542.1:c.568-1123C>A XP_011512844.1:n.568-1123C>A
NM_001526.4:c.763-1123C>A NP_001517.2:n.763-1123C>A
XM_017010798.1:c.763-1123C>A XP_016866287.1:n.763-1123C>A
NM_001384272.1:c.763-1123C>A MANE Select NP_001371201.1:n.763-1123C>A
NM_001526.5:c.763-1123C>A NP_001517.2:n.763-1123C>A