Canonical Allele Identifier: CA10579921

Gene: PALB2

Linked Data

• ClinVar Variation Id: 230327
• ClinVar RCV Id: RCV000219653 ; RCV000465602 ; RCV001030407 ; RCV003316205 ; RCV003417784
• dbSNP Id: rs515726112
• gnomAD v2: 16-23619229-G-A
• gnomAD v4: 16-23607908-G-A
• COSMIC: COSM1376805
• MyVariant Identifiers: chr16:g.23619229G>A (hg19) ; chr16:g.23607908G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607908G>A , CM000678.2:g.23607908G>A	GRCh38
NC_000016.9:g.23619229G>A , CM000678.1:g.23619229G>A	GRCh37
NC_000016.8:g.23526730G>A	NCBI36
NG_007406.1:g.38450C>T , LRG_308:g.38450C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3312C>T	ENSP00000460666.3:p.Ser1104=
ENST00000565038.2:c.*787C>T	ENSP00000459882.2:n.*787C>T
ENST00000566069.6:c.3202-4239C>T	ENSP00000459237.2:n.3202-4239C>T
ENST00000697377.2:c.3150C>T	ENSP00000513286.2:p.Ser1050=
ENST00000697379.2:c.3312C>T	ENSP00000513287.2:p.Ser1104=
ENST00000561514.2:c.2421C>T	ENSP00000460666.2:p.Ser807=
ENST00000697374.1:c.2421C>T	ENSP00000513284.1:p.Ser807=
ENST00000697375.1:n.4653C>T
ENST00000697376.1:c.2317-4239C>T	ENSP00000513285.1:n.2317-4239C>T
ENST00000697377.1:c.2259C>T	ENSP00000513286.1:p.Ser753=
ENST00000697378.1:n.3826C>T
ENST00000697379.1:c.2421C>T	ENSP00000513287.1:p.Ser807=
ENST00000697380.1:n.2510C>T
ENST00000697381.1:n.2001C>T
ENST00000697382.1:c.*83C>T	ENSP00000513288.1:n.*83C>T
ENST00000697383.1:c.840C>T	ENSP00000513289.1:p.Ser280=
ENST00000261584.9:c.3306C>T MANE Select	ENSP00000261584.4:p.Ser1102=
ENST00000261584.8:c.3306C>T	ENSP00000261584.4:p.Ser1102=
ENST00000566069.5:c.117-4239C>T
ENST00000568219.5:c.2421C>T	ENSP00000454703.2:p.Ser807=
NM_024675.3:c.3306C>T , LRG_308t1:c.3306C>T	NP_078951.2:p.Ser1102=
XM_011545946.1:c.3312C>T	XP_011544248.1:p.Ser1104=
XM_011545947.1:c.3208-4239C>T	XP_011544249.1:n.3208-4239C>T
XM_011545948.1:c.2421C>T	XP_011544250.1:p.Ser807=
XR_950851.1:n.4014C>T
XM_011545946.2:c.3312C>T	XP_011544248.1:p.Ser1104=
XM_011545947.2:c.3208-4239C>T	XP_011544249.1:n.3208-4239C>T
XM_011545948.2:c.2421C>T	XP_011544250.1:p.Ser807=
XM_017023671.1:c.3120-4239C>T	XP_016879160.1:n.3120-4239C>T
XM_017023672.2:c.3114-4239C>T	XP_016879161.1:n.3114-4239C>T
XM_017023673.2:c.3202-4239C>T	XP_016879162.1:n.3202-4239C>T
NM_024675.4:c.3306C>T MANE Select	NP_078951.2:p.Ser1102=