Canonical Allele Identifier: CA14311926

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1292399
• ClinVar RCV Id: RCV001718060 ; RCV002225926
• dbSNP Id: rs249935
• gnomAD v2: 16-23625224-T-C
• gnomAD v3: 16-23613903-T-C
• gnomAD v4: 16-23613903-T-C
• MyVariant Identifiers: chr16:g.23625224T>C (hg19) ; chr16:g.23613903T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23613903T>C , CM000678.2:g.23613903T>C	GRCh38
NC_000016.9:g.23625224T>C , CM000678.1:g.23625224T>C	GRCh37
NC_000016.8:g.23532725T>C	NCBI36
NG_007406.1:g.32455A>G , LRG_308:g.32455A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3207+101A>G	ENSP00000460666.3:n.3207+101A>G
ENST00000565038.2:c.*682+101A>G	ENSP00000459882.2:n.*682+101A>G
ENST00000566069.6:c.3201+101A>G	ENSP00000459237.2:n.3201+101A>G
ENST00000697377.2:c.3045+101A>G	ENSP00000513286.2:n.3045+101A>G
ENST00000697379.2:c.3207+101A>G	ENSP00000513287.2:n.3207+101A>G
ENST00000561514.2:c.2316+101A>G	ENSP00000460666.2:n.2316+101A>G
ENST00000697374.1:c.2316+101A>G	ENSP00000513284.1:n.2316+101A>G
ENST00000697375.1:n.4548+101A>G
ENST00000697376.1:c.2316+101A>G	ENSP00000513285.1:n.2316+101A>G
ENST00000697377.1:c.2154+101A>G	ENSP00000513286.1:n.2154+101A>G
ENST00000697378.1:n.3721+101A>G
ENST00000697379.1:c.2316+101A>G	ENSP00000513287.1:n.2316+101A>G
ENST00000697380.1:n.2406-5891A>G
ENST00000697381.1:n.1896+101A>G
ENST00000697382.1:c.2229-5891A>G	ENSP00000513288.1:n.2229-5891A>G
ENST00000697383.1:c.735+101A>G	ENSP00000513289.1:n.735+101A>G
ENST00000261584.9:c.3201+101A>G MANE Select	ENSP00000261584.4:n.3201+101A>G
ENST00000261584.8:c.3201+101A>G	ENSP00000261584.4:n.3201+101A>G
ENST00000566069.5:c.116+101A>G
ENST00000568219.5:c.2316+101A>G	ENSP00000454703.2:n.2316+101A>G
NM_024675.3:c.3201+101A>G , LRG_308t1:c.3201+101A>G	NP_078951.2:n.3201+101A>G
XM_011545946.1:c.3207+101A>G	XP_011544248.1:n.3207+101A>G
XM_011545947.1:c.3207+101A>G	XP_011544249.1:n.3207+101A>G
XM_011545948.1:c.2316+101A>G	XP_011544250.1:n.2316+101A>G
XR_950851.1:n.3910-5891A>G
XM_011545946.2:c.3207+101A>G	XP_011544248.1:n.3207+101A>G
XM_011545947.2:c.3207+101A>G	XP_011544249.1:n.3207+101A>G
XM_011545948.2:c.2316+101A>G	XP_011544250.1:n.2316+101A>G
XM_017023671.1:c.3119+7459A>G	XP_016879160.1:n.3119+7459A>G
XM_017023672.2:c.3113+7459A>G	XP_016879161.1:n.3113+7459A>G
XM_017023673.2:c.3201+101A>G	XP_016879162.1:n.3201+101A>G
NM_024675.4:c.3201+101A>G MANE Select	NP_078951.2:n.3201+101A>G