Canonical Allele Identifier: CA16620129

Gene: PALB2

Linked Data - Variant Effect Evidence

Linked Data - NCBI & NCI

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626370C>T , CM000678.2:g.23626370C>T	GRCh38
NC_000016.9:g.23637691C>T , CM000678.1:g.23637691C>T	GRCh37
NC_000016.8:g.23545192C>T	NCBI36
NG_007406.1:g.19988G>A , LRG_308:g.19988G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2620G>A	ENSP00000460666.3:p.Val874Met
ENST00000565038.2:c.*95G>A	ENSP00000459882.2:n.*95G>A
ENST00000566069.6:c.2614G>A	ENSP00000459237.2:p.Val872Met
ENST00000697377.2:c.2593-2276G>A	ENSP00000513286.2:n.2593-2276G>A
ENST00000697379.2:c.2620G>A	ENSP00000513287.2:p.Val874Met
ENST00000561514.2:c.1729G>A	ENSP00000460666.2:p.Val577Met
ENST00000697374.1:c.1729G>A	ENSP00000513284.1:p.Val577Met
ENST00000697375.1:n.3961G>A
ENST00000697376.1:c.1729G>A	ENSP00000513285.1:p.Val577Met
ENST00000697377.1:c.1702-2276G>A	ENSP00000513286.1:n.1702-2276G>A
ENST00000697378.1:n.3134G>A
ENST00000697379.1:c.1729G>A	ENSP00000513287.1:p.Val577Met
ENST00000697380.1:n.1906G>A
ENST00000697381.1:n.1309G>A
ENST00000697382.1:c.1729G>A	ENSP00000513288.1:p.Val577Met
ENST00000697383.1:c.148G>A	ENSP00000513289.1:p.Val50Met
ENST00000261584.9:c.2614G>A MANE Select	ENSP00000261584.4:p.Val872Met
ENST00000261584.8:c.2614G>A	ENSP00000261584.4:p.Val872Met
ENST00000565038.1:c.186G>A
ENST00000568219.5:c.1729G>A	ENSP00000454703.2:p.Val577Met
NM_024675.3:c.2614G>A , LRG_308t1:c.2614G>A	NP_078951.2:p.Val872Met
XM_011545946.1:c.2620G>A	XP_011544248.1:p.Val874Met
XM_011545947.1:c.2620G>A	XP_011544249.1:p.Val874Met
XM_011545948.1:c.1729G>A	XP_011544250.1:p.Val577Met
XR_950851.1:n.3410G>A
XM_011545946.2:c.2620G>A	XP_011544248.1:p.Val874Met
XM_011545947.2:c.2620G>A	XP_011544249.1:p.Val874Met
XM_011545948.2:c.1729G>A	XP_011544250.1:p.Val577Met
XM_017023671.1:c.2620G>A	XP_016879160.1:p.Val874Met
XM_017023672.2:c.2614G>A	XP_016879161.1:p.Val872Met
XM_017023673.2:c.2614G>A	XP_016879162.1:p.Val872Met
NM_024675.4:c.2614G>A MANE Select	NP_078951.2:p.Val872Met