Canonical Allele Identifier: CA395141112

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1063905
• ClinVar RCV Id: RCV001373793
• dbSNP Id: rs2142298635
• MyVariant Identifiers: chr16:g.23625330C>T (hg19) ; chr16:g.23614009C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614009C>T , CM000678.2:g.23614009C>T	GRCh38
NC_000016.9:g.23625330C>T , CM000678.1:g.23625330C>T	GRCh37
NC_000016.8:g.23532831C>T	NCBI36
NG_007406.1:g.32349G>A , LRG_308:g.32349G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3202G>A	ENSP00000460666.3:p.Glu1068Lys
ENST00000565038.2:c.*677G>A	ENSP00000459882.2:n.*677G>A
ENST00000566069.6:c.3196G>A	ENSP00000459237.2:p.Glu1066Lys
ENST00000697377.2:c.3040G>A	ENSP00000513286.2:p.Glu1014Lys
ENST00000697379.2:c.3202G>A	ENSP00000513287.2:p.Glu1068Lys
ENST00000561514.2:c.2311G>A	ENSP00000460666.2:p.Glu771Lys
ENST00000697374.1:c.2311G>A	ENSP00000513284.1:p.Glu771Lys
ENST00000697375.1:n.4543G>A
ENST00000697376.1:c.2311G>A	ENSP00000513285.1:p.Glu771Lys
ENST00000697377.1:c.2149G>A	ENSP00000513286.1:p.Glu717Lys
ENST00000697378.1:n.3716G>A
ENST00000697379.1:c.2311G>A	ENSP00000513287.1:p.Glu771Lys
ENST00000697380.1:n.2406-5997G>A
ENST00000697381.1:n.1891G>A
ENST00000697382.1:c.2229-5997G>A	ENSP00000513288.1:n.2229-5997G>A
ENST00000697383.1:c.730G>A	ENSP00000513289.1:p.Glu244Lys
ENST00000261584.9:c.3196G>A MANE Select	ENSP00000261584.4:p.Glu1066Lys
ENST00000261584.8:c.3196G>A	ENSP00000261584.4:p.Glu1066Lys
ENST00000566069.5:c.111G>A
ENST00000568219.5:c.2311G>A	ENSP00000454703.2:p.Glu771Lys
NM_024675.3:c.3196G>A , LRG_308t1:c.3196G>A	NP_078951.2:p.Glu1066Lys
XM_011545946.1:c.3202G>A	XP_011544248.1:p.Glu1068Lys
XM_011545947.1:c.3202G>A	XP_011544249.1:p.Glu1068Lys
XM_011545948.1:c.2311G>A	XP_011544250.1:p.Glu771Lys
XR_950851.1:n.3910-5997G>A
XM_011545946.2:c.3202G>A	XP_011544248.1:p.Glu1068Lys
XM_011545947.2:c.3202G>A	XP_011544249.1:p.Glu1068Lys
XM_011545948.2:c.2311G>A	XP_011544250.1:p.Glu771Lys
XM_017023671.1:c.3119+7353G>A	XP_016879160.1:n.3119+7353G>A
XM_017023672.2:c.3113+7353G>A	XP_016879161.1:n.3113+7353G>A
XM_017023673.2:c.3196G>A	XP_016879162.1:p.Glu1066Lys
NM_024675.4:c.3196G>A MANE Select	NP_078951.2:p.Glu1066Lys