Canonical Allele Identifier: CA417561202
Gene: PTCH2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.44823064G>C , CM000663.2:g.44823064G>C GRCh38
NC_000001.10:g.45288736G>C , CM000663.1:g.45288736G>C GRCh37
NC_000001.9:g.45061323G>C NCBI36
NG_013369.1:g.24881C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000372192.4:c.3357+5C>G MANE Select ENSP00000361266.3:n.3357+5C>G
ENST00000372192.3:c.3357+5C>G ENSP00000361266.3:n.3357+5C>G
ENST00000438067.5:c.118+5C>G
ENST00000447098.6:c.3357+5C>G ENSP00000389703.2:n.3357+5C>G
NM_001166292.1:c.3357+5C>G NP_001159764.1:n.3357+5C>G
NM_003738.4:c.3357+5C>G NP_003729.3:n.3357+5C>G
NM_003738.5:c.3357+5C>G MANE Select NP_003729.3:n.3357+5C>G
NM_001166292.2:c.3357+5C>G NP_001159764.1:n.3357+5C>G