Canonical Allele Identifier: CA567498035
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs1477437154
gnomAD v2: 6-55045114-G-A
gnomAD v3: 6-55180316-G-A
gnomAD v4: 6-55180316-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55180316G>A , CM000668.2:g.55180316G>A GRCh38
NC_000006.11:g.55045114G>A , CM000668.1:g.55045114G>A GRCh37
NC_000006.10:g.55153073G>A NCBI36
NG_012447.1:g.11044G>A
NG_012447.2:g.78857G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000370862.4:c.223+5506G>A MANE Select ENSP00000359899.3:n.223+5506G>A
ENST00000370862.3:c.223+5506G>A ENSP00000359899.3:n.223+5506G>A
ENST00000615358.4:c.223+5506G>A ENSP00000477548.1:n.223+5506G>A
NM_001526.3:c.223+5506G>A NP_001517.2:n.223+5506G>A
NM_001526.4:c.223+5506G>A NP_001517.2:n.223+5506G>A
XM_017010798.1:c.223+5506G>A XP_016866287.1:n.223+5506G>A
NM_001384272.1:c.223+5506G>A MANE Select NP_001371201.1:n.223+5506G>A
NM_001526.5:c.223+5506G>A NP_001517.2:n.223+5506G>A