Canonical Allele Identifier: CA395138245

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1731073
• ClinVar RCV Id: RCV002452082
• MyVariant Identifiers: chr16:g.23614940G>T (hg19) ; chr16:g.23603619G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603619G>T , CM000678.2:g.23603619G>T	GRCh38
NC_000016.9:g.23614940G>T , CM000678.1:g.23614940G>T	GRCh37
NC_000016.8:g.23522441G>T	NCBI36
NG_007406.1:g.42739C>A , LRG_308:g.42739C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3407C>A	ENSP00000460666.3:p.Ser1136Tyr
ENST00000565038.2:c.*886C>A	ENSP00000459882.2:n.*886C>A
ENST00000566069.6:c.*36C>A	ENSP00000459237.2:n.*36C>A
ENST00000697377.2:c.3245C>A	ENSP00000513286.2:p.Ser1082Tyr
ENST00000697379.2:c.3407C>A	ENSP00000513287.2:p.Ser1136Tyr
ENST00000561514.2:c.2516C>A	ENSP00000460666.2:p.Ser839Tyr
ENST00000697374.1:c.2516C>A	ENSP00000513284.1:p.Ser839Tyr
ENST00000697375.1:n.4748C>A
ENST00000697376.1:c.*36C>A	ENSP00000513285.1:n.*36C>A
ENST00000697377.1:c.2354C>A	ENSP00000513286.1:p.Ser785Tyr
ENST00000697378.1:n.3921C>A
ENST00000697379.1:c.2516C>A	ENSP00000513287.1:p.Ser839Tyr
ENST00000697380.1:n.2605C>A
ENST00000697381.1:n.2096C>A
ENST00000697382.1:c.*178C>A	ENSP00000513288.1:n.*178C>A
ENST00000697383.1:c.935C>A	ENSP00000513289.1:p.Ser312Tyr
ENST00000261584.9:c.3401C>A MANE Select	ENSP00000261584.4:p.Ser1134Tyr
ENST00000261584.8:c.3401C>A	ENSP00000261584.4:p.Ser1134Tyr
ENST00000566069.5:c.167C>A
ENST00000568219.5:c.2516C>A	ENSP00000454703.2:p.Ser839Tyr
NM_024675.3:c.3401C>A , LRG_308t1:c.3401C>A	NP_078951.2:p.Ser1134Tyr
XM_011545946.1:c.3407C>A	XP_011544248.1:p.Ser1136Tyr
XM_011545947.1:c.*36C>A	XP_011544249.1:n.*36C>A
XM_011545948.1:c.2516C>A	XP_011544250.1:p.Ser839Tyr
XR_950851.1:n.4109C>A
XM_011545946.2:c.3407C>A	XP_011544248.1:p.Ser1136Tyr
XM_011545947.2:c.*36C>A	XP_011544249.1:n.*36C>A
XM_011545948.2:c.2516C>A	XP_011544250.1:p.Ser839Tyr
XM_017023671.1:c.3170C>A	XP_016879160.1:p.Ser1057Tyr
XM_017023672.2:c.3164C>A	XP_016879161.1:p.Ser1055Tyr
XM_017023673.2:c.*36C>A	XP_016879162.1:n.*36C>A
NM_024675.4:c.3401C>A MANE Select	NP_078951.2:p.Ser1134Tyr