Canonical Allele Identifier: CA395138247

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614941A>C (hg19) ; chr16:g.23603620A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603620A>C , CM000678.2:g.23603620A>C	GRCh38
NC_000016.9:g.23614941A>C , CM000678.1:g.23614941A>C	GRCh37
NC_000016.8:g.23522442A>C	NCBI36
NG_007406.1:g.42738T>G , LRG_308:g.42738T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3406T>G	ENSP00000460666.3:p.Ser1136Ala
ENST00000565038.2:c.*885T>G	ENSP00000459882.2:n.*885T>G
ENST00000566069.6:c.*35T>G	ENSP00000459237.2:n.*35T>G
ENST00000697377.2:c.3244T>G	ENSP00000513286.2:p.Ser1082Ala
ENST00000697379.2:c.3406T>G	ENSP00000513287.2:p.Ser1136Ala
ENST00000561514.2:c.2515T>G	ENSP00000460666.2:p.Ser839Ala
ENST00000697374.1:c.2515T>G	ENSP00000513284.1:p.Ser839Ala
ENST00000697375.1:n.4747T>G
ENST00000697376.1:c.*35T>G	ENSP00000513285.1:n.*35T>G
ENST00000697377.1:c.2353T>G	ENSP00000513286.1:p.Ser785Ala
ENST00000697378.1:n.3920T>G
ENST00000697379.1:c.2515T>G	ENSP00000513287.1:p.Ser839Ala
ENST00000697380.1:n.2604T>G
ENST00000697381.1:n.2095T>G
ENST00000697382.1:c.*177T>G	ENSP00000513288.1:n.*177T>G
ENST00000697383.1:c.934T>G	ENSP00000513289.1:p.Ser312Ala
ENST00000261584.9:c.3400T>G MANE Select	ENSP00000261584.4:p.Ser1134Ala
ENST00000261584.8:c.3400T>G	ENSP00000261584.4:p.Ser1134Ala
ENST00000566069.5:c.166T>G
ENST00000568219.5:c.2515T>G	ENSP00000454703.2:p.Ser839Ala
NM_024675.3:c.3400T>G , LRG_308t1:c.3400T>G	NP_078951.2:p.Ser1134Ala
XM_011545946.1:c.3406T>G	XP_011544248.1:p.Ser1136Ala
XM_011545947.1:c.*35T>G	XP_011544249.1:n.*35T>G
XM_011545948.1:c.2515T>G	XP_011544250.1:p.Ser839Ala
XR_950851.1:n.4108T>G
XM_011545946.2:c.3406T>G	XP_011544248.1:p.Ser1136Ala
XM_011545947.2:c.*35T>G	XP_011544249.1:n.*35T>G
XM_011545948.2:c.2515T>G	XP_011544250.1:p.Ser839Ala
XM_017023671.1:c.3169T>G	XP_016879160.1:p.Ser1057Ala
XM_017023672.2:c.3163T>G	XP_016879161.1:p.Ser1055Ala
XM_017023673.2:c.*35T>G	XP_016879162.1:n.*35T>G
NM_024675.4:c.3400T>G MANE Select	NP_078951.2:p.Ser1134Ala