Canonical Allele Identifier: CA15442419
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs9370399
gnomAD v2: 6-55045025-A-C
gnomAD v3: 6-55180227-A-C
gnomAD v4: 6-55180227-A-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55180227A>C , CM000668.2:g.55180227A>C GRCh38
NC_000006.11:g.55045025A>C , CM000668.1:g.55045025A>C GRCh37
NC_000006.10:g.55152984A>C NCBI36
NG_012447.1:g.10955A>C
NG_012447.2:g.78768A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000370862.4:c.223+5417A>C MANE Select ENSP00000359899.3:n.223+5417A>C
ENST00000370862.3:c.223+5417A>C ENSP00000359899.3:n.223+5417A>C
ENST00000615358.4:c.223+5417A>C ENSP00000477548.1:n.223+5417A>C
NM_001526.3:c.223+5417A>C NP_001517.2:n.223+5417A>C
NM_001526.4:c.223+5417A>C NP_001517.2:n.223+5417A>C
XM_017010798.1:c.223+5417A>C XP_016866287.1:n.223+5417A>C
NM_001384272.1:c.223+5417A>C MANE Select NP_001371201.1:n.223+5417A>C
NM_001526.5:c.223+5417A>C NP_001517.2:n.223+5417A>C