Canonical Allele Identifier: CA1089197937
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs1765106333
gnomAD v3: 6-55180150-C-G
gnomAD v4: 6-55180150-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55180150C>G , CM000668.2:g.55180150C>G GRCh38
NC_000006.11:g.55044948C>G , CM000668.1:g.55044948C>G GRCh37
NC_000006.10:g.55152907C>G NCBI36
NG_012447.1:g.10878C>G
NG_012447.2:g.78691C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370862.4:c.223+5340C>G MANE Select ENSP00000359899.3:n.223+5340C>G
ENST00000370862.3:c.223+5340C>G ENSP00000359899.3:n.223+5340C>G
ENST00000615358.4:c.223+5340C>G ENSP00000477548.1:n.223+5340C>G
NM_001526.3:c.223+5340C>G NP_001517.2:n.223+5340C>G
NM_001526.4:c.223+5340C>G NP_001517.2:n.223+5340C>G
XM_017010798.1:c.223+5340C>G XP_016866287.1:n.223+5340C>G
NM_001384272.1:c.223+5340C>G MANE Select NP_001371201.1:n.223+5340C>G
NM_001526.5:c.223+5340C>G NP_001517.2:n.223+5340C>G