Canonical Allele Identifier: CA494173618

Gene: PALB2

Linked Data

• dbSNP Id: rs2142253555
• MyVariant Identifiers: chr16:g.23614891G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603570G>C , CM000678.2:g.23603570G>C	GRCh38
NC_000016.9:g.23614891G>C , CM000678.1:g.23614891G>C	GRCh37
NC_000016.8:g.23522392G>C	NCBI36
NG_007406.1:g.42788C>G , LRG_308:g.42788C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3456C>G	ENSP00000460666.3:p.Leu1152=
ENST00000565038.2:c.*935C>G	ENSP00000459882.2:n.*935C>G
ENST00000566069.6:c.*85C>G	ENSP00000459237.2:n.*85C>G
ENST00000697377.2:c.3294C>G	ENSP00000513286.2:p.Leu1098=
ENST00000697379.2:c.3456C>G	ENSP00000513287.2:p.Leu1152=
ENST00000561514.2:c.2565C>G	ENSP00000460666.2:p.Leu855=
ENST00000697374.1:c.2565C>G	ENSP00000513284.1:p.Leu855=
ENST00000697375.1:n.4797C>G
ENST00000697376.1:c.*85C>G	ENSP00000513285.1:n.*85C>G
ENST00000697377.1:c.2403C>G	ENSP00000513286.1:p.Leu801=
ENST00000697378.1:n.3970C>G
ENST00000697379.1:c.2565C>G	ENSP00000513287.1:p.Leu855=
ENST00000697380.1:n.2654C>G
ENST00000697381.1:n.2145C>G
ENST00000697382.1:c.*227C>G	ENSP00000513288.1:n.*227C>G
ENST00000697383.1:c.984C>G	ENSP00000513289.1:p.Leu328=
ENST00000261584.9:c.3450C>G MANE Select	ENSP00000261584.4:p.Leu1150=
ENST00000261584.8:c.3450C>G	ENSP00000261584.4:p.Leu1150=
ENST00000566069.5:c.216C>G
ENST00000568219.5:c.2565C>G	ENSP00000454703.2:p.Leu855=
NM_024675.3:c.3450C>G , LRG_308t1:c.3450C>G	NP_078951.2:p.Leu1150=
XM_011545946.1:c.3456C>G	XP_011544248.1:p.Leu1152=
XM_011545947.1:c.*85C>G	XP_011544249.1:n.*85C>G
XM_011545948.1:c.2565C>G	XP_011544250.1:p.Leu855=
XR_950851.1:n.4158C>G
XM_011545946.2:c.3456C>G	XP_011544248.1:p.Leu1152=
XM_011545947.2:c.*85C>G	XP_011544249.1:n.*85C>G
XM_011545948.2:c.2565C>G	XP_011544250.1:p.Leu855=
XM_017023671.1:c.3219C>G	XP_016879160.1:p.Leu1073=
XM_017023672.2:c.3213C>G	XP_016879161.1:p.Leu1071=
XM_017023673.2:c.*85C>G	XP_016879162.1:n.*85C>G
NM_024675.4:c.3450C>G MANE Select	NP_078951.2:p.Leu1150=