Canonical Allele Identifier: CA288457

Gene: PALB2

Linked Data

• ClinVar Variation Id: 128137
• ClinVar RCV Id: RCV000561324 ; RCV000589774 ; RCV000706273
• dbSNP Id: rs587780215
• ExAC: 16:23625401 G / C
• gnomAD v2: 16-23625401-G-C
• gnomAD v3: 16-23614080-G-C
• gnomAD v4: 16-23614080-G-C
• MyVariant Identifiers: chr16:g.23625401G>C (hg19) ; chr16:g.23614080G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614080G>C , CM000678.2:g.23614080G>C	GRCh38
NC_000016.9:g.23625401G>C , CM000678.1:g.23625401G>C	GRCh37
NC_000016.8:g.23532902G>C	NCBI36
NG_007406.1:g.32278C>G , LRG_308:g.32278C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3131C>G	ENSP00000460666.3:p.Thr1044Ser
ENST00000565038.2:c.*606C>G	ENSP00000459882.2:n.*606C>G
ENST00000566069.6:c.3125C>G	ENSP00000459237.2:p.Thr1042Ser
ENST00000697377.2:c.2969C>G	ENSP00000513286.2:p.Thr990Ser
ENST00000697379.2:c.3131C>G	ENSP00000513287.2:p.Thr1044Ser
ENST00000561514.2:c.2240C>G	ENSP00000460666.2:p.Thr747Ser
ENST00000697374.1:c.2240C>G	ENSP00000513284.1:p.Thr747Ser
ENST00000697375.1:n.4472C>G
ENST00000697376.1:c.2240C>G	ENSP00000513285.1:p.Thr747Ser
ENST00000697377.1:c.2078C>G	ENSP00000513286.1:p.Thr693Ser
ENST00000697378.1:n.3645C>G
ENST00000697379.1:c.2240C>G	ENSP00000513287.1:p.Thr747Ser
ENST00000697380.1:n.2406-6068C>G
ENST00000697381.1:n.1820C>G
ENST00000697382.1:c.2229-6068C>G	ENSP00000513288.1:n.2229-6068C>G
ENST00000697383.1:c.659C>G	ENSP00000513289.1:p.Thr220Ser
ENST00000261584.9:c.3125C>G MANE Select	ENSP00000261584.4:p.Thr1042Ser
ENST00000261584.8:c.3125C>G	ENSP00000261584.4:p.Thr1042Ser
ENST00000566069.5:c.40C>G
ENST00000568219.5:c.2240C>G	ENSP00000454703.2:p.Thr747Ser
NM_024675.3:c.3125C>G , LRG_308t1:c.3125C>G	NP_078951.2:p.Thr1042Ser
XM_011545946.1:c.3131C>G	XP_011544248.1:p.Thr1044Ser
XM_011545947.1:c.3131C>G	XP_011544249.1:p.Thr1044Ser
XM_011545948.1:c.2240C>G	XP_011544250.1:p.Thr747Ser
XR_950851.1:n.3910-6068C>G
XM_011545946.2:c.3131C>G	XP_011544248.1:p.Thr1044Ser
XM_011545947.2:c.3131C>G	XP_011544249.1:p.Thr1044Ser
XM_011545948.2:c.2240C>G	XP_011544250.1:p.Thr747Ser
XM_017023671.1:c.3119+7282C>G	XP_016879160.1:n.3119+7282C>G
XM_017023672.2:c.3113+7282C>G	XP_016879161.1:n.3113+7282C>G
XM_017023673.2:c.3125C>G	XP_016879162.1:p.Thr1042Ser
NM_024675.4:c.3125C>G MANE Select	NP_078951.2:p.Thr1042Ser