Canonical Allele Identifier: CA117974

Gene: PTCH2

Linked Data

• ClinVar Variation Id: 6145
• ClinVar RCV Id: RCV000006520 ; RCV000490457
• dbSNP Id: rs56126236
• ExAC: 1:45295115 CAG / C
• gnomAD v2: 1-45295115-CAG-C
• gnomAD v3: 1-44829443-CAG-C
• gnomAD v4: 1-44829443-CAG-C
• MyVariant Identifiers: chr1:g.45295116_45295117del (hg19) ; chr1:g.44829444_44829445del (hg38)
• PubMed: PMID:9931336 ; PMID:23479190

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44829447_44829448del , CM000663.2:g.44829447_44829448del	GRCh38
NC_000001.10:g.45295119_45295120del , CM000663.1:g.45295119_45295120del	GRCh37
NC_000001.9:g.45067706_45067707del	NCBI36
NG_013369.1:g.18500_18501del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372192.4:c.1172_1173del MANE Select	ENSP00000361266.3:p.Ser391Ter
ENST00000372192.3:c.1172_1173del	ENSP00000361266.3:p.Ser391Ter
ENST00000447098.6:c.1172_1173del	ENSP00000389703.2:p.Ser391Ter
NM_001166292.1:c.1172_1173del	NP_001159764.1:p.Ser391Ter
NM_003738.4:c.1172_1173del	NP_003729.3:p.Ser391Ter
NM_003738.5:c.1172_1173del MANE Select	NP_003729.3:p.Ser391Ter
NM_001166292.2:c.1172_1173del	NP_001159764.1:p.Ser391Ter