Canonical Allele Identifier: CA364609025

Gene: HCRTR2

Linked Data

• MyVariant Identifiers: chr6:g.55113440G>T (hg19) ; chr6:g.55248642G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55248642G>T , CM000668.2:g.55248642G>T	GRCh38
NC_000006.11:g.55113440G>T , CM000668.1:g.55113440G>T	GRCh37
NC_000006.10:g.55221399G>T	NCBI36
NG_012447.1:g.79370G>T
NG_012447.2:g.147183G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370862.4:c.227G>T MANE Select	ENSP00000359899.3:p.Cys76Phe
ENST00000370862.3:c.227G>T	ENSP00000359899.3:p.Cys76Phe
ENST00000615358.4:c.227G>T	ENSP00000477548.1:p.Cys76Phe
NM_001526.3:c.227G>T	NP_001517.2:p.Cys76Phe
XM_011514542.1:c.32G>T	XP_011512844.1:p.Cys11Phe
NM_001526.4:c.227G>T	NP_001517.2:p.Cys76Phe
XM_017010798.1:c.227G>T	XP_016866287.1:p.Cys76Phe
NM_001384272.1:c.227G>T MANE Select	NP_001371201.1:p.Cys76Phe
NM_001526.5:c.227G>T	NP_001517.2:p.Cys76Phe