Canonical Allele Identifier: CA364609029

Gene: HCRTR2

Linked Data

• dbSNP Id: rs1766490943
• gnomAD v4: 6-55248644-G-A
• MyVariant Identifiers: chr6:g.55113442G>A (hg19) ; chr6:g.55248644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55248644G>A , CM000668.2:g.55248644G>A	GRCh38
NC_000006.11:g.55113442G>A , CM000668.1:g.55113442G>A	GRCh37
NC_000006.10:g.55221401G>A	NCBI36
NG_012447.1:g.79372G>A
NG_012447.2:g.147185G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370862.4:c.229G>A MANE Select	ENSP00000359899.3:p.Val77Met
ENST00000370862.3:c.229G>A	ENSP00000359899.3:p.Val77Met
ENST00000615358.4:c.229G>A	ENSP00000477548.1:p.Val77Met
NM_001526.3:c.229G>A	NP_001517.2:p.Val77Met
XM_011514542.1:c.34G>A	XP_011512844.1:p.Val12Met
NM_001526.4:c.229G>A	NP_001517.2:p.Val77Met
XM_017010798.1:c.229G>A	XP_016866287.1:p.Val77Met
NM_001384272.1:c.229G>A MANE Select	NP_001371201.1:p.Val77Met
NM_001526.5:c.229G>A	NP_001517.2:p.Val77Met