Canonical Allele Identifier: CA567639515
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs1433011987
gnomAD v2: 6-55113433-T-C
gnomAD v4: 6-55248635-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55248635T>C , CM000668.2:g.55248635T>C GRCh38
NC_000006.11:g.55113433T>C , CM000668.1:g.55113433T>C GRCh37
NC_000006.10:g.55221392T>C NCBI36
NG_012447.1:g.79363T>C
NG_012447.2:g.147176T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370862.4:c.224-4T>C MANE Select ENSP00000359899.3:n.224-4T>C
ENST00000370862.3:c.224-4T>C ENSP00000359899.3:n.224-4T>C
ENST00000615358.4:c.224-4T>C ENSP00000477548.1:n.224-4T>C
NM_001526.3:c.224-4T>C NP_001517.2:n.224-4T>C
XM_011514542.1:c.29-4T>C XP_011512844.1:n.29-4T>C
NM_001526.4:c.224-4T>C NP_001517.2:n.224-4T>C
XM_017010798.1:c.224-4T>C XP_016866287.1:n.224-4T>C
NM_001384272.1:c.224-4T>C MANE Select NP_001371201.1:n.224-4T>C
NM_001526.5:c.224-4T>C NP_001517.2:n.224-4T>C