Canonical Allele Identifier: CA494461136

Gene: PALB2

Linked Data

• ClinVar Variation Id: 742730
• ClinVar RCV Id: RCV001498412 ; RCV002416136
• dbSNP Id: rs1430544638
• gnomAD v4: 16-23629994-G-C
• COSMIC: COSM4710879
• MyVariant Identifiers: chr16:g.23641315G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629994G>C , CM000678.2:g.23629994G>C	GRCh38
NC_000016.9:g.23641315G>C , CM000678.1:g.23641315G>C	GRCh37
NC_000016.8:g.23548816G>C	NCBI36
NG_007406.1:g.16364C>G , LRG_308:g.16364C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2166C>G	ENSP00000460666.3:p.Thr722=
ENST00000565038.2:c.212-719C>G	ENSP00000459882.2:n.212-719C>G
ENST00000566069.6:c.2160C>G	ENSP00000459237.2:p.Thr720=
ENST00000697377.2:c.2166C>G	ENSP00000513286.2:p.Thr722=
ENST00000697379.2:c.2166C>G	ENSP00000513287.2:p.Thr722=
ENST00000561514.2:c.1275C>G	ENSP00000460666.2:p.Thr425=
ENST00000697374.1:c.1275C>G	ENSP00000513284.1:p.Thr425=
ENST00000697375.1:n.3507C>G
ENST00000697376.1:c.1275C>G	ENSP00000513285.1:p.Thr425=
ENST00000697377.1:c.1275C>G	ENSP00000513286.1:p.Thr425=
ENST00000697378.1:n.2680C>G
ENST00000697379.1:c.1275C>G	ENSP00000513287.1:p.Thr425=
ENST00000697380.1:n.1088C>G
ENST00000697381.1:n.855C>G
ENST00000697382.1:c.1275C>G	ENSP00000513288.1:p.Thr425=
ENST00000697383.1:c.49-719C>G	ENSP00000513289.1:n.49-719C>G
ENST00000697384.1:n.2314C>G
ENST00000261584.9:c.2160C>G MANE Select	ENSP00000261584.4:p.Thr720=
ENST00000261584.8:c.2160C>G	ENSP00000261584.4:p.Thr720=
ENST00000565038.1:c.87-719C>G
ENST00000568219.5:c.1275C>G	ENSP00000454703.2:p.Thr425=
NM_024675.3:c.2160C>G , LRG_308t1:c.2160C>G	NP_078951.2:p.Thr720=
XM_011545946.1:c.2166C>G	XP_011544248.1:p.Thr722=
XM_011545947.1:c.2166C>G	XP_011544249.1:p.Thr722=
XM_011545948.1:c.1275C>G	XP_011544250.1:p.Thr425=
XR_950851.1:n.2956C>G
XM_011545946.2:c.2166C>G	XP_011544248.1:p.Thr722=
XM_011545947.2:c.2166C>G	XP_011544249.1:p.Thr722=
XM_011545948.2:c.1275C>G	XP_011544250.1:p.Thr425=
XM_017023671.1:c.2166C>G	XP_016879160.1:p.Thr722=
XM_017023672.2:c.2160C>G	XP_016879161.1:p.Thr720=
XM_017023673.2:c.2160C>G	XP_016879162.1:p.Thr720=
NM_024675.4:c.2160C>G MANE Select	NP_078951.2:p.Thr720=