Canonical Allele Identifier: CA395139741

Gene: PALB2

Linked Data

• ClinVar Variation Id: 919796
• ClinVar RCV Id: RCV001178204 ; RCV001875881
• dbSNP Id: rs1966509780
• gnomAD v4: 16-23607949-C-T
• MyVariant Identifiers: chr16:g.23619270C>T (hg19) ; chr16:g.23607949C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607949C>T , CM000678.2:g.23607949C>T	GRCh38
NC_000016.9:g.23619270C>T , CM000678.1:g.23619270C>T	GRCh37
NC_000016.8:g.23526771C>T	NCBI36
NG_007406.1:g.38409G>A , LRG_308:g.38409G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3271G>A	ENSP00000460666.3:p.Val1091Met
ENST00000565038.2:c.*746G>A	ENSP00000459882.2:n.*746G>A
ENST00000566069.6:c.3202-4280G>A	ENSP00000459237.2:n.3202-4280G>A
ENST00000697377.2:c.3109G>A	ENSP00000513286.2:p.Val1037Met
ENST00000697379.2:c.3271G>A	ENSP00000513287.2:p.Val1091Met
ENST00000561514.2:c.2380G>A	ENSP00000460666.2:p.Val794Met
ENST00000697374.1:c.2380G>A	ENSP00000513284.1:p.Val794Met
ENST00000697375.1:n.4612G>A
ENST00000697376.1:c.2317-4280G>A	ENSP00000513285.1:n.2317-4280G>A
ENST00000697377.1:c.2218G>A	ENSP00000513286.1:p.Val740Met
ENST00000697378.1:n.3785G>A
ENST00000697379.1:c.2380G>A	ENSP00000513287.1:p.Val794Met
ENST00000697380.1:n.2469G>A
ENST00000697381.1:n.1960G>A
ENST00000697382.1:c.*42G>A	ENSP00000513288.1:n.*42G>A
ENST00000697383.1:c.799G>A	ENSP00000513289.1:p.Val267Met
ENST00000261584.9:c.3265G>A MANE Select	ENSP00000261584.4:p.Val1089Met
ENST00000261584.8:c.3265G>A	ENSP00000261584.4:p.Val1089Met
ENST00000566069.5:c.117-4280G>A
ENST00000568219.5:c.2380G>A	ENSP00000454703.2:p.Val794Met
NM_024675.3:c.3265G>A , LRG_308t1:c.3265G>A	NP_078951.2:p.Val1089Met
XM_011545946.1:c.3271G>A	XP_011544248.1:p.Val1091Met
XM_011545947.1:c.3208-4280G>A	XP_011544249.1:n.3208-4280G>A
XM_011545948.1:c.2380G>A	XP_011544250.1:p.Val794Met
XR_950851.1:n.3973G>A
XM_011545946.2:c.3271G>A	XP_011544248.1:p.Val1091Met
XM_011545947.2:c.3208-4280G>A	XP_011544249.1:n.3208-4280G>A
XM_011545948.2:c.2380G>A	XP_011544250.1:p.Val794Met
XM_017023671.1:c.3120-4280G>A	XP_016879160.1:n.3120-4280G>A
XM_017023672.2:c.3114-4280G>A	XP_016879161.1:n.3114-4280G>A
XM_017023673.2:c.3202-4280G>A	XP_016879162.1:n.3202-4280G>A
NM_024675.4:c.3265G>A MANE Select	NP_078951.2:p.Val1089Met