Canonical Allele Identifier: CA16608121

Gene: PALB2

Linked Data

• ClinVar Variation Id: 379622
• ClinVar RCV Id: RCV000436797 ; RCV003449055
• dbSNP Id: rs886039479
• MyVariant Identifiers: chr16:g.23646443G>T (hg19) ; chr16:g.23635122G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635122G>T , CM000678.2:g.23635122G>T	GRCh38
NC_000016.9:g.23646443G>T , CM000678.1:g.23646443G>T	GRCh37
NC_000016.8:g.23553944G>T	NCBI36
NG_007406.1:g.11236C>A , LRG_308:g.11236C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1430C>A	ENSP00000460666.3:p.Ser477Ter
ENST00000565038.2:c.211+2728C>A	ENSP00000459882.2:n.211+2728C>A
ENST00000566069.6:c.1424C>A	ENSP00000459237.2:p.Ser475Ter
ENST00000697377.2:c.1430C>A	ENSP00000513286.2:p.Ser477Ter
ENST00000697379.2:c.1430C>A	ENSP00000513287.2:p.Ser477Ter
ENST00000561514.2:c.539C>A	ENSP00000460666.2:p.Ser180Ter
ENST00000697374.1:c.539C>A	ENSP00000513284.1:p.Ser180Ter
ENST00000697375.1:n.2771C>A
ENST00000697376.1:c.539C>A	ENSP00000513285.1:p.Ser180Ter
ENST00000697377.1:c.539C>A	ENSP00000513286.1:p.Ser180Ter
ENST00000697378.1:n.1944C>A
ENST00000697379.1:c.539C>A	ENSP00000513287.1:p.Ser180Ter
ENST00000697382.1:c.539C>A	ENSP00000513288.1:p.Ser180Ter
ENST00000697383.1:c.49-5847C>A	ENSP00000513289.1:n.49-5847C>A
ENST00000697384.1:n.1578C>A
ENST00000261584.9:c.1424C>A MANE Select	ENSP00000261584.4:p.Ser475Ter
ENST00000261584.8:c.1424C>A	ENSP00000261584.4:p.Ser475Ter
ENST00000565038.1:c.86+2728C>A
ENST00000568219.5:c.539C>A	ENSP00000454703.2:p.Ser180Ter
NM_024675.3:c.1424C>A , LRG_308t1:c.1424C>A	NP_078951.2:p.Ser475Ter
XM_011545946.1:c.1430C>A	XP_011544248.1:p.Ser477Ter
XM_011545947.1:c.1430C>A	XP_011544249.1:p.Ser477Ter
XM_011545948.1:c.539C>A	XP_011544250.1:p.Ser180Ter
XR_950851.1:n.2220C>A
XM_011545946.2:c.1430C>A	XP_011544248.1:p.Ser477Ter
XM_011545947.2:c.1430C>A	XP_011544249.1:p.Ser477Ter
XM_011545948.2:c.539C>A	XP_011544250.1:p.Ser180Ter
XM_017023671.1:c.1430C>A	XP_016879160.1:p.Ser477Ter
XM_017023672.2:c.1424C>A	XP_016879161.1:p.Ser475Ter
XM_017023673.2:c.1424C>A	XP_016879162.1:p.Ser475Ter
NM_024675.4:c.1424C>A MANE Select	NP_078951.2:p.Ser475Ter