Canonical Allele Identifier: CA139610138

Gene: HCRTR2

Linked Data

• dbSNP Id: rs763270012
• gnomAD v2: 6-55134089-G-A
• gnomAD v3: 6-55269291-G-A
• gnomAD v4: 6-55269291-G-A
• MyVariant Identifiers: chr6:g.55134089G>A (hg19) ; chr6:g.55269291G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55269291G>A , CM000668.2:g.55269291G>A	GRCh38
NC_000006.11:g.55134089G>A , CM000668.1:g.55134089G>A	GRCh37
NC_000006.10:g.55242048G>A	NCBI36
NG_012447.1:g.100019G>A
NG_012447.2:g.167832G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370862.4:c.762+5469G>A MANE Select	ENSP00000359899.3:n.762+5469G>A
ENST00000370862.3:c.762+5469G>A	ENSP00000359899.3:n.762+5469G>A
ENST00000615358.4:c.762+5469G>A	ENSP00000477548.1:n.762+5469G>A
NM_001526.3:c.762+5469G>A	NP_001517.2:n.762+5469G>A
XM_011514542.1:c.567+5469G>A	XP_011512844.1:n.567+5469G>A
NM_001526.4:c.762+5469G>A	NP_001517.2:n.762+5469G>A
XM_017010798.1:c.762+5469G>A	XP_016866287.1:n.762+5469G>A
NM_001384272.1:c.762+5469G>A MANE Select	NP_001371201.1:n.762+5469G>A
NM_001526.5:c.762+5469G>A	NP_001517.2:n.762+5469G>A