Canonical Allele Identifier: CA364609014

Gene: HCRTR2

Linked Data

• gnomAD v3: 6-55248638-G-T
• gnomAD v4: 6-55248638-G-T
• MyVariant Identifiers: chr6:g.55113436G>T (hg19) ; chr6:g.55248638G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55248638G>T , CM000668.2:g.55248638G>T	GRCh38
NC_000006.11:g.55113436G>T , CM000668.1:g.55113436G>T	GRCh37
NC_000006.10:g.55221395G>T	NCBI36
NG_012447.1:g.79366G>T
NG_012447.2:g.147179G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000370862.4:c.224-1G>T MANE Select	ENSP00000359899.3:n.224-1G>T
ENST00000370862.3:c.224-1G>T	ENSP00000359899.3:n.224-1G>T
ENST00000615358.4:c.224-1G>T	ENSP00000477548.1:n.224-1G>T
NM_001526.3:c.224-1G>T	NP_001517.2:n.224-1G>T
XM_011514542.1:c.29-1G>T	XP_011512844.1:n.29-1G>T
NM_001526.4:c.224-1G>T	NP_001517.2:n.224-1G>T
XM_017010798.1:c.224-1G>T	XP_016866287.1:n.224-1G>T
NM_001384272.1:c.224-1G>T MANE Select	NP_001371201.1:n.224-1G>T
NM_001526.5:c.224-1G>T	NP_001517.2:n.224-1G>T