Canonical Allele Identifier: CA348183

Gene: PALB2

Linked Data

• ClinVar Variation Id: 220808
• ClinVar RCV Id: RCV000203889 ; RCV000573572 ; RCV000679765
• dbSNP Id: rs146455175
• gnomAD v2: 16-23640550-T-C
• gnomAD v4: 16-23629229-T-C
• MyVariant Identifiers: chr16:g.23640550T>C (hg19) ; chr16:g.23629229T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629229T>C , CM000678.2:g.23629229T>C	GRCh38
NC_000016.9:g.23640550T>C , CM000678.1:g.23640550T>C	GRCh37
NC_000016.8:g.23548051T>C	NCBI36
NG_007406.1:g.17129A>G , LRG_308:g.17129A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2567A>G	ENSP00000460666.3:p.Asn856Ser
ENST00000565038.2:c.*42A>G	ENSP00000459882.2:n.*42A>G
ENST00000566069.6:c.2561A>G	ENSP00000459237.2:p.Asn854Ser
ENST00000697377.2:c.2567A>G	ENSP00000513286.2:p.Asn856Ser
ENST00000697379.2:c.2567A>G	ENSP00000513287.2:p.Asn856Ser
ENST00000561514.2:c.1676A>G	ENSP00000460666.2:p.Asn559Ser
ENST00000697374.1:c.1676A>G	ENSP00000513284.1:p.Asn559Ser
ENST00000697375.1:n.3908A>G
ENST00000697376.1:c.1676A>G	ENSP00000513285.1:p.Asn559Ser
ENST00000697377.1:c.1676A>G	ENSP00000513286.1:p.Asn559Ser
ENST00000697378.1:n.3081A>G
ENST00000697379.1:c.1676A>G	ENSP00000513287.1:p.Asn559Ser
ENST00000697380.1:n.1853A>G
ENST00000697381.1:n.1256A>G
ENST00000697382.1:c.1676A>G	ENSP00000513288.1:p.Asn559Ser
ENST00000697383.1:c.95A>G	ENSP00000513289.1:p.Asn32Ser
ENST00000697384.1:n.2715A>G
ENST00000261584.9:c.2561A>G MANE Select	ENSP00000261584.4:p.Asn854Ser
ENST00000261584.8:c.2561A>G	ENSP00000261584.4:p.Asn854Ser
ENST00000565038.1:c.133A>G
ENST00000568219.5:c.1676A>G	ENSP00000454703.2:p.Asn559Ser
NM_024675.3:c.2561A>G , LRG_308t1:c.2561A>G	NP_078951.2:p.Asn854Ser
XM_011545946.1:c.2567A>G	XP_011544248.1:p.Asn856Ser
XM_011545947.1:c.2567A>G	XP_011544249.1:p.Asn856Ser
XM_011545948.1:c.1676A>G	XP_011544250.1:p.Asn559Ser
XR_950851.1:n.3357A>G
XM_011545946.2:c.2567A>G	XP_011544248.1:p.Asn856Ser
XM_011545947.2:c.2567A>G	XP_011544249.1:p.Asn856Ser
XM_011545948.2:c.1676A>G	XP_011544250.1:p.Asn559Ser
XM_017023671.1:c.2567A>G	XP_016879160.1:p.Asn856Ser
XM_017023672.2:c.2561A>G	XP_016879161.1:p.Asn854Ser
XM_017023673.2:c.2561A>G	XP_016879162.1:p.Asn854Ser
NM_024675.4:c.2561A>G MANE Select	NP_078951.2:p.Asn854Ser