Canonical Allele Identifier: CA822815

Gene: PTCH2

Linked Data

• ClinVar Variation Id: 239559
• ClinVar RCV Id: RCV000225933 ; RCV004020800
• dbSNP Id: rs147567317
• ExAC: 1:45291965 G / A
• gnomAD v2: 1-45291965-G-A
• gnomAD v3: 1-44826293-G-A
• gnomAD v4: 1-44826293-G-A
• MyVariant Identifiers: chr1:g.45291965G>A (hg19) ; chr1:g.44826293G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.44826293G>A , CM000663.2:g.44826293G>A	GRCh38
NC_000001.10:g.45291965G>A , CM000663.1:g.45291965G>A	GRCh37
NC_000001.9:g.45064552G>A	NCBI36
NG_013369.1:g.21652C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000372192.4:c.3071C>T MANE Select	ENSP00000361266.3:p.Ala1024Val
ENST00000372192.3:c.3071C>T	ENSP00000361266.3:p.Ala1024Val
ENST00000447098.6:c.3071C>T	ENSP00000389703.2:p.Ala1024Val
NM_001166292.1:c.3071C>T	NP_001159764.1:p.Ala1024Val
NM_003738.4:c.3071C>T	NP_003729.3:p.Ala1024Val
NM_003738.5:c.3071C>T MANE Select	NP_003729.3:p.Ala1024Val
NM_001166292.2:c.3071C>T	NP_001159764.1:p.Ala1024Val