Canonical Allele Identifier: CA494167932

Gene: PALB2

Linked Data

• dbSNP Id: rs2142460018
• MyVariant Identifiers: chr16:g.23649400G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23638079G>C , CM000678.2:g.23638079G>C	GRCh38
NC_000016.9:g.23649400G>C , CM000678.1:g.23649400G>C	GRCh37
NC_000016.8:g.23556901G>C	NCBI36
NG_007406.1:g.8279C>G , LRG_308:g.8279C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.105C>G	ENSP00000460666.3:p.Ala35=
ENST00000565038.2:c.99C>G	ENSP00000459882.2:p.Ala33=
ENST00000566069.6:c.99C>G	ENSP00000459237.2:p.Ala33=
ENST00000697377.2:c.105C>G	ENSP00000513286.2:p.Ala35=
ENST00000697379.2:c.105C>G	ENSP00000513287.2:p.Ala35=
ENST00000561514.2:c.-787C>G	ENSP00000460666.2:n.-787C>G
ENST00000697374.1:c.-787C>G	ENSP00000513284.1:n.-787C>G
ENST00000697375.1:n.1446C>G
ENST00000697376.1:c.-823C>G	ENSP00000513285.1:n.-823C>G
ENST00000697377.1:c.-787C>G	ENSP00000513286.1:n.-787C>G
ENST00000697378.1:n.619C>G
ENST00000697379.1:c.-787C>G	ENSP00000513287.1:n.-787C>G
ENST00000697382.1:c.-787C>G	ENSP00000513288.1:n.-787C>G
ENST00000697383.1:c.48+3031C>G	ENSP00000513289.1:n.48+3031C>G
ENST00000697384.1:n.253C>G
ENST00000261584.9:c.99C>G MANE Select	ENSP00000261584.4:p.Ala33=
ENST00000261584.8:c.99C>G	ENSP00000261584.4:p.Ala33=
ENST00000561514.1:c.105C>G	ENSP00000460666.1:p.Ala35=
ENST00000567003.1:n.377C>G
ENST00000568219.5:c.-787C>G	ENSP00000454703.2:n.-787C>G
NM_024675.3:c.99C>G , LRG_308t1:c.99C>G	NP_078951.2:p.Ala33=
XM_011545946.1:c.105C>G	XP_011544248.1:p.Ala35=
XM_011545947.1:c.105C>G	XP_011544249.1:p.Ala35=
XM_011545948.1:c.-787C>G	XP_011544250.1:n.-787C>G
XR_950851.1:n.895C>G
XM_011545946.2:c.105C>G	XP_011544248.1:p.Ala35=
XM_011545947.2:c.105C>G	XP_011544249.1:p.Ala35=
XM_011545948.2:c.-787C>G	XP_011544250.1:n.-787C>G
XM_017023671.1:c.105C>G	XP_016879160.1:p.Ala35=
XM_017023672.2:c.99C>G	XP_016879161.1:p.Ala33=
XM_017023673.2:c.99C>G	XP_016879162.1:p.Ala33=
NM_024675.4:c.99C>G MANE Select	NP_078951.2:p.Ala33=