Canonical Allele Identifier: CA567488248
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs1369315021
gnomAD v2: 6-55141165-T-C
gnomAD v3: 6-55276367-T-C
gnomAD v4: 6-55276367-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55276367T>C , CM000668.2:g.55276367T>C GRCh38
NC_000006.11:g.55141165T>C , CM000668.1:g.55141165T>C GRCh37
NC_000006.10:g.55249124T>C NCBI36
NG_012447.1:g.107095T>C
NG_012447.2:g.174908T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000370862.4:c.763-1013T>C MANE Select ENSP00000359899.3:n.763-1013T>C
ENST00000370862.3:c.763-1013T>C ENSP00000359899.3:n.763-1013T>C
ENST00000615358.4:c.763-1013T>C ENSP00000477548.1:n.763-1013T>C
NM_001526.3:c.763-1013T>C NP_001517.2:n.763-1013T>C
XM_011514542.1:c.568-1013T>C XP_011512844.1:n.568-1013T>C
NM_001526.4:c.763-1013T>C NP_001517.2:n.763-1013T>C
XM_017010798.1:c.763-1013T>C XP_016866287.1:n.763-1013T>C
NM_001384272.1:c.763-1013T>C MANE Select NP_001371201.1:n.763-1013T>C
NM_001526.5:c.763-1013T>C NP_001517.2:n.763-1013T>C