Canonical Allele Identifier: CA395138378

Gene: PALB2

Linked Data

• dbSNP Id: rs62625282
• MyVariant Identifiers: chr16:g.23614979C>G (hg19) ; chr16:g.23603658C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603658C>G , CM000678.2:g.23603658C>G	GRCh38
NC_000016.9:g.23614979C>G , CM000678.1:g.23614979C>G	GRCh37
NC_000016.8:g.23522480C>G	NCBI36
NG_007406.1:g.42700G>C , LRG_308:g.42700G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3368G>C	ENSP00000460666.3:p.Gly1123Ala
ENST00000565038.2:c.*847G>C	ENSP00000459882.2:n.*847G>C
ENST00000566069.6:c.3213G>C	ENSP00000459237.2:p.Arg1071Ser
ENST00000697377.2:c.3206G>C	ENSP00000513286.2:p.Gly1069Ala
ENST00000697379.2:c.3368G>C	ENSP00000513287.2:p.Gly1123Ala
ENST00000561514.2:c.2477G>C	ENSP00000460666.2:p.Gly826Ala
ENST00000697374.1:c.2477G>C	ENSP00000513284.1:p.Gly826Ala
ENST00000697375.1:n.4709G>C
ENST00000697376.1:c.2328G>C	ENSP00000513285.1:p.Arg776Ser
ENST00000697377.1:c.2315G>C	ENSP00000513286.1:p.Gly772Ala
ENST00000697378.1:n.3882G>C
ENST00000697379.1:c.2477G>C	ENSP00000513287.1:p.Gly826Ala
ENST00000697380.1:n.2566G>C
ENST00000697381.1:n.2057G>C
ENST00000697382.1:c.*139G>C	ENSP00000513288.1:n.*139G>C
ENST00000697383.1:c.896G>C	ENSP00000513289.1:p.Gly299Ala
ENST00000261584.9:c.3362G>C MANE Select	ENSP00000261584.4:p.Gly1121Ala
ENST00000261584.8:c.3362G>C	ENSP00000261584.4:p.Gly1121Ala
ENST00000566069.5:c.128G>C
ENST00000568219.5:c.2477G>C	ENSP00000454703.2:p.Gly826Ala
NM_024675.3:c.3362G>C , LRG_308t1:c.3362G>C	NP_078951.2:p.Gly1121Ala
XM_011545946.1:c.3368G>C	XP_011544248.1:p.Gly1123Ala
XM_011545947.1:c.3219G>C	XP_011544249.1:p.Arg1073Ser
XM_011545948.1:c.2477G>C	XP_011544250.1:p.Gly826Ala
XR_950851.1:n.4070G>C
XM_011545946.2:c.3368G>C	XP_011544248.1:p.Gly1123Ala
XM_011545947.2:c.3219G>C	XP_011544249.1:p.Arg1073Ser
XM_011545948.2:c.2477G>C	XP_011544250.1:p.Gly826Ala
XM_017023671.1:c.3131G>C	XP_016879160.1:p.Gly1044Ala
XM_017023672.2:c.3125G>C	XP_016879161.1:p.Gly1042Ala
XM_017023673.2:c.3213G>C	XP_016879162.1:p.Arg1071Ser
NM_024675.4:c.3362G>C MANE Select	NP_078951.2:p.Gly1121Ala