Canonical Allele Identifier: CA395139326

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1063569
• ClinVar RCV Id: RCV001373419
• dbSNP Id: rs864622193
• MyVariant Identifiers: chr16:g.23619204G>A (hg19) ; chr16:g.23607883G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607883G>A , CM000678.2:g.23607883G>A	GRCh38
NC_000016.9:g.23619204G>A , CM000678.1:g.23619204G>A	GRCh37
NC_000016.8:g.23526705G>A	NCBI36
NG_007406.1:g.38475C>T , LRG_308:g.38475C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3337C>T	ENSP00000460666.3:p.Pro1113Ser
ENST00000565038.2:c.*812C>T	ENSP00000459882.2:n.*812C>T
ENST00000566069.6:c.3202-4214C>T	ENSP00000459237.2:n.3202-4214C>T
ENST00000697377.2:c.3175C>T	ENSP00000513286.2:p.Pro1059Ser
ENST00000697379.2:c.3337C>T	ENSP00000513287.2:p.Pro1113Ser
ENST00000561514.2:c.2446C>T	ENSP00000460666.2:p.Pro816Ser
ENST00000697374.1:c.2446C>T	ENSP00000513284.1:p.Pro816Ser
ENST00000697375.1:n.4678C>T
ENST00000697376.1:c.2317-4214C>T	ENSP00000513285.1:n.2317-4214C>T
ENST00000697377.1:c.2284C>T	ENSP00000513286.1:p.Pro762Ser
ENST00000697378.1:n.3851C>T
ENST00000697379.1:c.2446C>T	ENSP00000513287.1:p.Pro816Ser
ENST00000697380.1:n.2535C>T
ENST00000697381.1:n.2026C>T
ENST00000697382.1:c.*108C>T	ENSP00000513288.1:n.*108C>T
ENST00000697383.1:c.865C>T	ENSP00000513289.1:p.Pro289Ser
ENST00000261584.9:c.3331C>T MANE Select	ENSP00000261584.4:p.Pro1111Ser
ENST00000261584.8:c.3331C>T	ENSP00000261584.4:p.Pro1111Ser
ENST00000566069.5:c.117-4214C>T
ENST00000568219.5:c.2446C>T	ENSP00000454703.2:p.Pro816Ser
NM_024675.3:c.3331C>T , LRG_308t1:c.3331C>T	NP_078951.2:p.Pro1111Ser
XM_011545946.1:c.3337C>T	XP_011544248.1:p.Pro1113Ser
XM_011545947.1:c.3208-4214C>T	XP_011544249.1:n.3208-4214C>T
XM_011545948.1:c.2446C>T	XP_011544250.1:p.Pro816Ser
XR_950851.1:n.4039C>T
XM_011545946.2:c.3337C>T	XP_011544248.1:p.Pro1113Ser
XM_011545947.2:c.3208-4214C>T	XP_011544249.1:n.3208-4214C>T
XM_011545948.2:c.2446C>T	XP_011544250.1:p.Pro816Ser
XM_017023671.1:c.3120-4214C>T	XP_016879160.1:n.3120-4214C>T
XM_017023672.2:c.3114-4214C>T	XP_016879161.1:n.3114-4214C>T
XM_017023673.2:c.3202-4214C>T	XP_016879162.1:n.3202-4214C>T
NM_024675.4:c.3331C>T MANE Select	NP_078951.2:p.Pro1111Ser