Canonical Allele Identifier: CA395137419

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23647470T>G (hg19) ; chr16:g.23636149T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23636149T>G , CM000678.2:g.23636149T>G	GRCh38
NC_000016.9:g.23647470T>G , CM000678.1:g.23647470T>G	GRCh37
NC_000016.8:g.23554971T>G	NCBI36
NG_007406.1:g.10209A>C , LRG_308:g.10209A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.403A>C	ENSP00000460666.3:p.Ser135Arg
ENST00000565038.2:c.211+1701A>C	ENSP00000459882.2:n.211+1701A>C
ENST00000566069.6:c.397A>C	ENSP00000459237.2:p.Ser133Arg
ENST00000697377.2:c.403A>C	ENSP00000513286.2:p.Ser135Arg
ENST00000697379.2:c.403A>C	ENSP00000513287.2:p.Ser135Arg
ENST00000561514.2:c.-489A>C	ENSP00000460666.2:n.-489A>C
ENST00000697374.1:c.-489A>C	ENSP00000513284.1:n.-489A>C
ENST00000697375.1:n.1744A>C
ENST00000697376.1:c.-489A>C	ENSP00000513285.1:n.-489A>C
ENST00000697377.1:c.-489A>C	ENSP00000513286.1:n.-489A>C
ENST00000697378.1:n.917A>C
ENST00000697379.1:c.-489A>C	ENSP00000513287.1:n.-489A>C
ENST00000697382.1:c.-489A>C	ENSP00000513288.1:n.-489A>C
ENST00000697383.1:c.48+4961A>C	ENSP00000513289.1:n.48+4961A>C
ENST00000697384.1:n.551A>C
ENST00000261584.9:c.397A>C MANE Select	ENSP00000261584.4:p.Ser133Arg
ENST00000261584.8:c.397A>C	ENSP00000261584.4:p.Ser133Arg
ENST00000565038.1:c.86+1701A>C
ENST00000567003.1:n.675A>C
ENST00000568219.5:c.-489A>C	ENSP00000454703.2:n.-489A>C
NM_024675.3:c.397A>C , LRG_308t1:c.397A>C	NP_078951.2:p.Ser133Arg
XM_011545946.1:c.403A>C	XP_011544248.1:p.Ser135Arg
XM_011545947.1:c.403A>C	XP_011544249.1:p.Ser135Arg
XM_011545948.1:c.-489A>C	XP_011544250.1:n.-489A>C
XR_950851.1:n.1193A>C
XM_011545946.2:c.403A>C	XP_011544248.1:p.Ser135Arg
XM_011545947.2:c.403A>C	XP_011544249.1:p.Ser135Arg
XM_011545948.2:c.-489A>C	XP_011544250.1:n.-489A>C
XM_017023671.1:c.403A>C	XP_016879160.1:p.Ser135Arg
XM_017023672.2:c.397A>C	XP_016879161.1:p.Ser133Arg
XM_017023673.2:c.397A>C	XP_016879162.1:p.Ser133Arg
NM_024675.4:c.397A>C MANE Select	NP_078951.2:p.Ser133Arg