Canonical Allele Identifier: CA279530869

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2023358
• ClinVar RCV Id: RCV002857891
• dbSNP Id: rs566549034
• gnomAD v4: 16-23614079-A-G
• MyVariant Identifiers: chr16:g.23625400A>G (hg19) ; chr16:g.23614079A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614079A>G , CM000678.2:g.23614079A>G	GRCh38
NC_000016.9:g.23625400A>G , CM000678.1:g.23625400A>G	GRCh37
NC_000016.8:g.23532901A>G	NCBI36
NG_007406.1:g.32279T>C , LRG_308:g.32279T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3132T>C	ENSP00000460666.3:p.Thr1044=
ENST00000565038.2:c.*607T>C	ENSP00000459882.2:n.*607T>C
ENST00000566069.6:c.3126T>C	ENSP00000459237.2:p.Thr1042=
ENST00000697377.2:c.2970T>C	ENSP00000513286.2:p.Thr990=
ENST00000697379.2:c.3132T>C	ENSP00000513287.2:p.Thr1044=
ENST00000561514.2:c.2241T>C	ENSP00000460666.2:p.Thr747=
ENST00000697374.1:c.2241T>C	ENSP00000513284.1:p.Thr747=
ENST00000697375.1:n.4473T>C
ENST00000697376.1:c.2241T>C	ENSP00000513285.1:p.Thr747=
ENST00000697377.1:c.2079T>C	ENSP00000513286.1:p.Thr693=
ENST00000697378.1:n.3646T>C
ENST00000697379.1:c.2241T>C	ENSP00000513287.1:p.Thr747=
ENST00000697380.1:n.2406-6067T>C
ENST00000697381.1:n.1821T>C
ENST00000697382.1:c.2229-6067T>C	ENSP00000513288.1:n.2229-6067T>C
ENST00000697383.1:c.660T>C	ENSP00000513289.1:p.Thr220=
ENST00000261584.9:c.3126T>C MANE Select	ENSP00000261584.4:p.Thr1042=
ENST00000261584.8:c.3126T>C	ENSP00000261584.4:p.Thr1042=
ENST00000566069.5:c.41T>C
ENST00000568219.5:c.2241T>C	ENSP00000454703.2:p.Thr747=
NM_024675.3:c.3126T>C , LRG_308t1:c.3126T>C	NP_078951.2:p.Thr1042=
XM_011545946.1:c.3132T>C	XP_011544248.1:p.Thr1044=
XM_011545947.1:c.3132T>C	XP_011544249.1:p.Thr1044=
XM_011545948.1:c.2241T>C	XP_011544250.1:p.Thr747=
XR_950851.1:n.3910-6067T>C
XM_011545946.2:c.3132T>C	XP_011544248.1:p.Thr1044=
XM_011545947.2:c.3132T>C	XP_011544249.1:p.Thr1044=
XM_011545948.2:c.2241T>C	XP_011544250.1:p.Thr747=
XM_017023671.1:c.3119+7283T>C	XP_016879160.1:n.3119+7283T>C
XM_017023672.2:c.3113+7283T>C	XP_016879161.1:n.3113+7283T>C
XM_017023673.2:c.3126T>C	XP_016879162.1:p.Thr1042=
NM_024675.4:c.3126T>C MANE Select	NP_078951.2:p.Thr1042=