Canonical Allele Identifier: CA10579915

Gene: PALB2

Linked Data

• ClinVar Variation Id: 232225
• ClinVar RCV Id: RCV000216504 ; RCV000635692
• dbSNP Id: rs876659632
• gnomAD v3: 16-23603603-A-C
• gnomAD v4: 16-23603603-A-C
• MyVariant Identifiers: chr16:g.23614924A>C (hg19) ; chr16:g.23603603A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603603A>C , CM000678.2:g.23603603A>C	GRCh38
NC_000016.9:g.23614924A>C , CM000678.1:g.23614924A>C	GRCh37
NC_000016.8:g.23522425A>C	NCBI36
NG_007406.1:g.42755T>G , LRG_308:g.42755T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3423T>G	ENSP00000460666.3:p.Ile1141Met
ENST00000565038.2:c.*902T>G	ENSP00000459882.2:n.*902T>G
ENST00000566069.6:c.*52T>G	ENSP00000459237.2:n.*52T>G
ENST00000697377.2:c.3261T>G	ENSP00000513286.2:p.Ile1087Met
ENST00000697379.2:c.3423T>G	ENSP00000513287.2:p.Ile1141Met
ENST00000561514.2:c.2532T>G	ENSP00000460666.2:p.Ile844Met
ENST00000697374.1:c.2532T>G	ENSP00000513284.1:p.Ile844Met
ENST00000697375.1:n.4764T>G
ENST00000697376.1:c.*52T>G	ENSP00000513285.1:n.*52T>G
ENST00000697377.1:c.2370T>G	ENSP00000513286.1:p.Ile790Met
ENST00000697378.1:n.3937T>G
ENST00000697379.1:c.2532T>G	ENSP00000513287.1:p.Ile844Met
ENST00000697380.1:n.2621T>G
ENST00000697381.1:n.2112T>G
ENST00000697382.1:c.*194T>G	ENSP00000513288.1:n.*194T>G
ENST00000697383.1:c.951T>G	ENSP00000513289.1:p.Ile317Met
ENST00000261584.9:c.3417T>G MANE Select	ENSP00000261584.4:p.Ile1139Met
ENST00000261584.8:c.3417T>G	ENSP00000261584.4:p.Ile1139Met
ENST00000566069.5:c.183T>G
ENST00000568219.5:c.2532T>G	ENSP00000454703.2:p.Ile844Met
NM_024675.3:c.3417T>G , LRG_308t1:c.3417T>G	NP_078951.2:p.Ile1139Met
XM_011545946.1:c.3423T>G	XP_011544248.1:p.Ile1141Met
XM_011545947.1:c.*52T>G	XP_011544249.1:n.*52T>G
XM_011545948.1:c.2532T>G	XP_011544250.1:p.Ile844Met
XR_950851.1:n.4125T>G
XM_011545946.2:c.3423T>G	XP_011544248.1:p.Ile1141Met
XM_011545947.2:c.*52T>G	XP_011544249.1:n.*52T>G
XM_011545948.2:c.2532T>G	XP_011544250.1:p.Ile844Met
XM_017023671.1:c.3186T>G	XP_016879160.1:p.Ile1062Met
XM_017023672.2:c.3180T>G	XP_016879161.1:p.Ile1060Met
XM_017023673.2:c.*52T>G	XP_016879162.1:n.*52T>G
NM_024675.4:c.3417T>G MANE Select	NP_078951.2:p.Ile1139Met