Canonical Allele Identifier: CA1089235551
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs1766926843
gnomAD v3: 6-55269342-G-C
gnomAD v4: 6-55269342-G-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55269342G>C , CM000668.2:g.55269342G>C GRCh38
NC_000006.11:g.55134140G>C , CM000668.1:g.55134140G>C GRCh37
NC_000006.10:g.55242099G>C NCBI36
NG_012447.1:g.100070G>C
NG_012447.2:g.167883G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370862.4:c.762+5520G>C MANE Select ENSP00000359899.3:n.762+5520G>C
ENST00000370862.3:c.762+5520G>C ENSP00000359899.3:n.762+5520G>C
ENST00000615358.4:c.762+5520G>C ENSP00000477548.1:n.762+5520G>C
NM_001526.3:c.762+5520G>C NP_001517.2:n.762+5520G>C
XM_011514542.1:c.567+5520G>C XP_011512844.1:n.567+5520G>C
NM_001526.4:c.762+5520G>C NP_001517.2:n.762+5520G>C
XM_017010798.1:c.762+5520G>C XP_016866287.1:n.762+5520G>C
NM_001384272.1:c.762+5520G>C MANE Select NP_001371201.1:n.762+5520G>C
NM_001526.5:c.762+5520G>C NP_001517.2:n.762+5520G>C