Canonical Allele Identifier: CA494163299

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1793319
• ClinVar RCV Id: RCV002452804
• dbSNP Id: rs1567216795
• gnomAD v4: 16-23629213-T-C
• MyVariant Identifiers: chr16:g.23640534T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629213T>C , CM000678.2:g.23629213T>C	GRCh38
NC_000016.9:g.23640534T>C , CM000678.1:g.23640534T>C	GRCh37
NC_000016.8:g.23548035T>C	NCBI36
NG_007406.1:g.17145A>G , LRG_308:g.17145A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2583A>G	ENSP00000460666.3:p.Ser861=
ENST00000565038.2:c.*58A>G	ENSP00000459882.2:n.*58A>G
ENST00000566069.6:c.2577A>G	ENSP00000459237.2:p.Ser859=
ENST00000697377.2:c.2583A>G	ENSP00000513286.2:p.Ser861=
ENST00000697379.2:c.2583A>G	ENSP00000513287.2:p.Ser861=
ENST00000561514.2:c.1692A>G	ENSP00000460666.2:p.Ser564=
ENST00000697374.1:c.1692A>G	ENSP00000513284.1:p.Ser564=
ENST00000697375.1:n.3924A>G
ENST00000697376.1:c.1692A>G	ENSP00000513285.1:p.Ser564=
ENST00000697377.1:c.1692A>G	ENSP00000513286.1:p.Ser564=
ENST00000697378.1:n.3097A>G
ENST00000697379.1:c.1692A>G	ENSP00000513287.1:p.Ser564=
ENST00000697380.1:n.1869A>G
ENST00000697381.1:n.1272A>G
ENST00000697382.1:c.1692A>G	ENSP00000513288.1:p.Ser564=
ENST00000697383.1:c.111A>G	ENSP00000513289.1:p.Ser37=
ENST00000697384.1:n.2731A>G
ENST00000261584.9:c.2577A>G MANE Select	ENSP00000261584.4:p.Ser859=
ENST00000261584.8:c.2577A>G	ENSP00000261584.4:p.Ser859=
ENST00000565038.1:c.149A>G
ENST00000568219.5:c.1692A>G	ENSP00000454703.2:p.Ser564=
NM_024675.3:c.2577A>G , LRG_308t1:c.2577A>G	NP_078951.2:p.Ser859=
XM_011545946.1:c.2583A>G	XP_011544248.1:p.Ser861=
XM_011545947.1:c.2583A>G	XP_011544249.1:p.Ser861=
XM_011545948.1:c.1692A>G	XP_011544250.1:p.Ser564=
XR_950851.1:n.3373A>G
XM_011545946.2:c.2583A>G	XP_011544248.1:p.Ser861=
XM_011545947.2:c.2583A>G	XP_011544249.1:p.Ser861=
XM_011545948.2:c.1692A>G	XP_011544250.1:p.Ser564=
XM_017023671.1:c.2583A>G	XP_016879160.1:p.Ser861=
XM_017023672.2:c.2577A>G	XP_016879161.1:p.Ser859=
XM_017023673.2:c.2577A>G	XP_016879162.1:p.Ser859=
NM_024675.4:c.2577A>G MANE Select	NP_078951.2:p.Ser859=