Canonical Allele Identifier: CA417561209
Gene: PTCH2 HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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