Canonical Allele Identifier: CA567498033

Gene: HCRTR2

Linked Data

• dbSNP Id: rs1244440772
• gnomAD v2: 6-55045100-CAT-C
• gnomAD v3: 6-55180302-CAT-C
• gnomAD v4: 6-55180302-CAT-C
• MyVariant Identifiers: chr6:g.55045101_55045102del (hg19) ; chr6:g.55180303_55180304del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55180303_55180304del , CM000668.2:g.55180303_55180304del	GRCh38
NC_000006.11:g.55045101_55045102del , CM000668.1:g.55045101_55045102del	GRCh37
NC_000006.10:g.55153060_55153061del	NCBI36
NG_012447.1:g.11031_11032del
NG_012447.2:g.78844_78845del

Transcript Alleles

HGVS	Amino-acid change
ENST00000370862.4:c.223+5493_223+5494del MANE Select	ENSP00000359899.3:n.223+5493_223+5494del
ENST00000370862.3:c.223+5493_223+5494del	ENSP00000359899.3:n.223+5493_223+5494del
ENST00000615358.4:c.223+5493_223+5494del	ENSP00000477548.1:n.223+5493_223+5494del
NM_001526.3:c.223+5493_223+5494del	NP_001517.2:n.223+5493_223+5494del
NM_001526.4:c.223+5493_223+5494del	NP_001517.2:n.223+5493_223+5494del
XM_017010798.1:c.223+5493_223+5494del	XP_016866287.1:n.223+5493_223+5494del
NM_001384272.1:c.223+5493_223+5494del MANE Select	NP_001371201.1:n.223+5493_223+5494del
NM_001526.5:c.223+5493_223+5494del	NP_001517.2:n.223+5493_223+5494del