Canonical Allele Identifier: CA395138382

Gene: PALB2

Linked Data

• dbSNP Id: rs1597062387
• MyVariant Identifiers: chr16:g.23614980C>A (hg19) ; chr16:g.23603659C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603659C>A , CM000678.2:g.23603659C>A	GRCh38
NC_000016.9:g.23614980C>A , CM000678.1:g.23614980C>A	GRCh37
NC_000016.8:g.23522481C>A	NCBI36
NG_007406.1:g.42699G>T , LRG_308:g.42699G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3367G>T	ENSP00000460666.3:p.Gly1123Cys
ENST00000565038.2:c.*846G>T	ENSP00000459882.2:n.*846G>T
ENST00000566069.6:c.3212G>T	ENSP00000459237.2:p.Arg1071Met
ENST00000697377.2:c.3205G>T	ENSP00000513286.2:p.Gly1069Cys
ENST00000697379.2:c.3367G>T	ENSP00000513287.2:p.Gly1123Cys
ENST00000561514.2:c.2476G>T	ENSP00000460666.2:p.Gly826Cys
ENST00000697374.1:c.2476G>T	ENSP00000513284.1:p.Gly826Cys
ENST00000697375.1:n.4708G>T
ENST00000697376.1:c.2327G>T	ENSP00000513285.1:p.Arg776Met
ENST00000697377.1:c.2314G>T	ENSP00000513286.1:p.Gly772Cys
ENST00000697378.1:n.3881G>T
ENST00000697379.1:c.2476G>T	ENSP00000513287.1:p.Gly826Cys
ENST00000697380.1:n.2565G>T
ENST00000697381.1:n.2056G>T
ENST00000697382.1:c.*138G>T	ENSP00000513288.1:n.*138G>T
ENST00000697383.1:c.895G>T	ENSP00000513289.1:p.Gly299Cys
ENST00000261584.9:c.3361G>T MANE Select	ENSP00000261584.4:p.Gly1121Cys
ENST00000261584.8:c.3361G>T	ENSP00000261584.4:p.Gly1121Cys
ENST00000566069.5:c.127G>T
ENST00000568219.5:c.2476G>T	ENSP00000454703.2:p.Gly826Cys
NM_024675.3:c.3361G>T , LRG_308t1:c.3361G>T	NP_078951.2:p.Gly1121Cys
XM_011545946.1:c.3367G>T	XP_011544248.1:p.Gly1123Cys
XM_011545947.1:c.3218G>T	XP_011544249.1:p.Arg1073Met
XM_011545948.1:c.2476G>T	XP_011544250.1:p.Gly826Cys
XR_950851.1:n.4069G>T
XM_011545946.2:c.3367G>T	XP_011544248.1:p.Gly1123Cys
XM_011545947.2:c.3218G>T	XP_011544249.1:p.Arg1073Met
XM_011545948.2:c.2476G>T	XP_011544250.1:p.Gly826Cys
XM_017023671.1:c.3130G>T	XP_016879160.1:p.Gly1044Cys
XM_017023672.2:c.3124G>T	XP_016879161.1:p.Gly1042Cys
XM_017023673.2:c.3212G>T	XP_016879162.1:p.Arg1071Met
NM_024675.4:c.3361G>T MANE Select	NP_078951.2:p.Gly1121Cys