Canonical Allele Identifier: CA3863621
Gene: HCRTR2 HGNC NCBI

Linked Data

dbSNP Id: rs2653349
gnomAD v2: 6-55142337-A-G
gnomAD v3: 6-55277539-A-G
gnomAD v4: 6-55277539-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.55277539A>G , CM000668.2:g.55277539A>G GRCh38
NC_000006.11:g.55142337A>G , CM000668.1:g.55142337A>G GRCh37
NC_000006.10:g.55250296A>G NCBI36
NG_012447.1:g.108267A>G
NG_012447.2:g.176080A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000370862.4:c.922A>G MANE Select ENSP00000359899.3:p.Ile308Val
ENST00000370862.3:c.922A>G ENSP00000359899.3:p.Ile308Val
ENST00000615358.4:c.922A>G ENSP00000477548.1:p.Ile308Val
NM_001526.3:c.922A>G NP_001517.2:p.Ile308Val
XM_011514542.1:c.727A>G XP_011512844.1:p.Ile243Val
NM_001526.4:c.922A>G NP_001517.2:p.Ile308Val
XM_017010798.1:c.922A>G XP_016866287.1:p.Ile308Val
NM_001384272.1:c.922A>G MANE Select NP_001371201.1:p.Ile308Val
NM_001526.5:c.922A>G NP_001517.2:p.Ile308Val