Canonical Allele Identifier: CA1089197989

Gene: HCRTR2

Linked Data

• dbSNP Id: rs1765109562
• gnomAD v3: 6-55180300-T-C
• gnomAD v4: 6-55180300-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55180300T>C , CM000668.2:g.55180300T>C	GRCh38
NC_000006.11:g.55045098T>C , CM000668.1:g.55045098T>C	GRCh37
NC_000006.10:g.55153057T>C	NCBI36
NG_012447.1:g.11028T>C
NG_012447.2:g.78841T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000370862.4:c.223+5490T>C MANE Select	ENSP00000359899.3:n.223+5490T>C
ENST00000370862.3:c.223+5490T>C	ENSP00000359899.3:n.223+5490T>C
ENST00000615358.4:c.223+5490T>C	ENSP00000477548.1:n.223+5490T>C
NM_001526.3:c.223+5490T>C	NP_001517.2:n.223+5490T>C
NM_001526.4:c.223+5490T>C	NP_001517.2:n.223+5490T>C
XM_017010798.1:c.223+5490T>C	XP_016866287.1:n.223+5490T>C
NM_001384272.1:c.223+5490T>C MANE Select	NP_001371201.1:n.223+5490T>C
NM_001526.5:c.223+5490T>C	NP_001517.2:n.223+5490T>C