Canonical Allele Identifier: CA1089235523
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs1766925794
gnomAD v3: 6-55269293-C-T
gnomAD v4: 6-55269293-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55269293C>T , CM000668.2:g.55269293C>T GRCh38
NC_000006.11:g.55134091C>T , CM000668.1:g.55134091C>T GRCh37
NC_000006.10:g.55242050C>T NCBI36
NG_012447.1:g.100021C>T
NG_012447.2:g.167834C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000370862.4:c.762+5471C>T MANE Select ENSP00000359899.3:n.762+5471C>T
ENST00000370862.3:c.762+5471C>T ENSP00000359899.3:n.762+5471C>T
ENST00000615358.4:c.762+5471C>T ENSP00000477548.1:n.762+5471C>T
NM_001526.3:c.762+5471C>T NP_001517.2:n.762+5471C>T
XM_011514542.1:c.567+5471C>T XP_011512844.1:n.567+5471C>T
NM_001526.4:c.762+5471C>T NP_001517.2:n.762+5471C>T
XM_017010798.1:c.762+5471C>T XP_016866287.1:n.762+5471C>T
NM_001384272.1:c.762+5471C>T MANE Select NP_001371201.1:n.762+5471C>T
NM_001526.5:c.762+5471C>T NP_001517.2:n.762+5471C>T