Canonical Allele Identifier: CA494180423

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1411714
• ClinVar RCV Id: RCV001943025 ; RCV002441026
• dbSNP Id: rs2142335769
• gnomAD v4: 16-23623034-T-C
• MyVariant Identifiers: chr16:g.23634355T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623034T>C , CM000678.2:g.23623034T>C	GRCh38
NC_000016.9:g.23634355T>C , CM000678.1:g.23634355T>C	GRCh37
NC_000016.8:g.23541856T>C	NCBI36
NG_007406.1:g.23324A>G , LRG_308:g.23324A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2937A>G	ENSP00000460666.3:p.Leu979=
ENST00000565038.2:c.*412A>G	ENSP00000459882.2:n.*412A>G
ENST00000566069.6:c.2931A>G	ENSP00000459237.2:p.Leu977=
ENST00000697377.2:c.2775A>G	ENSP00000513286.2:p.Leu925=
ENST00000697379.2:c.2937A>G	ENSP00000513287.2:p.Leu979=
ENST00000561514.2:c.2046A>G	ENSP00000460666.2:p.Leu682=
ENST00000697374.1:c.2046A>G	ENSP00000513284.1:p.Leu682=
ENST00000697375.1:n.4278A>G
ENST00000697376.1:c.2046A>G	ENSP00000513285.1:p.Leu682=
ENST00000697377.1:c.1884A>G	ENSP00000513286.1:p.Leu628=
ENST00000697378.1:n.3451A>G
ENST00000697379.1:c.2046A>G	ENSP00000513287.1:p.Leu682=
ENST00000697380.1:n.2223A>G
ENST00000697381.1:n.1626A>G
ENST00000697382.1:c.2046A>G	ENSP00000513288.1:p.Leu682=
ENST00000697383.1:c.465A>G	ENSP00000513289.1:p.Leu155=
ENST00000261584.9:c.2931A>G MANE Select	ENSP00000261584.4:p.Leu977=
ENST00000261584.8:c.2931A>G	ENSP00000261584.4:p.Leu977=
ENST00000568219.5:c.2046A>G	ENSP00000454703.2:p.Leu682=
NM_024675.3:c.2931A>G , LRG_308t1:c.2931A>G	NP_078951.2:p.Leu977=
XM_011545946.1:c.2937A>G	XP_011544248.1:p.Leu979=
XM_011545947.1:c.2937A>G	XP_011544249.1:p.Leu979=
XM_011545948.1:c.2046A>G	XP_011544250.1:p.Leu682=
XR_950851.1:n.3727A>G
XM_011545946.2:c.2937A>G	XP_011544248.1:p.Leu979=
XM_011545947.2:c.2937A>G	XP_011544249.1:p.Leu979=
XM_011545948.2:c.2046A>G	XP_011544250.1:p.Leu682=
XM_017023671.1:c.2937A>G	XP_016879160.1:p.Leu979=
XM_017023672.2:c.2931A>G	XP_016879161.1:p.Leu977=
XM_017023673.2:c.2931A>G	XP_016879162.1:p.Leu977=
NM_024675.4:c.2931A>G MANE Select	NP_078951.2:p.Leu977=