Canonical Allele Identifier: CA364609021

Gene: HCRTR2

Linked Data

• gnomAD v4: 6-55248641-T-C
• MyVariant Identifiers: chr6:g.55113439T>C (hg19) ; chr6:g.55248641T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55248641T>C , CM000668.2:g.55248641T>C	GRCh38
NC_000006.11:g.55113439T>C , CM000668.1:g.55113439T>C	GRCh37
NC_000006.10:g.55221398T>C	NCBI36
NG_012447.1:g.79369T>C
NG_012447.2:g.147182T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370862.4:c.226T>C MANE Select	ENSP00000359899.3:p.Cys76Arg
ENST00000370862.3:c.226T>C	ENSP00000359899.3:p.Cys76Arg
ENST00000615358.4:c.226T>C	ENSP00000477548.1:p.Cys76Arg
NM_001526.3:c.226T>C	NP_001517.2:p.Cys76Arg
XM_011514542.1:c.31T>C	XP_011512844.1:p.Cys11Arg
NM_001526.4:c.226T>C	NP_001517.2:p.Cys76Arg
XM_017010798.1:c.226T>C	XP_016866287.1:p.Cys76Arg
NM_001384272.1:c.226T>C MANE Select	NP_001371201.1:p.Cys76Arg
NM_001526.5:c.226T>C	NP_001517.2:p.Cys76Arg