Canonical Allele Identifier: CA395138383

Gene: PALB2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3367G>C	ENSP00000460666.3:p.Gly1123Arg
ENST00000565038.2:c.*846G>C	ENSP00000459882.2:n.*846G>C
ENST00000566069.6:c.3212G>C	ENSP00000459237.2:p.Arg1071Thr
ENST00000697377.2:c.3205G>C	ENSP00000513286.2:p.Gly1069Arg
ENST00000697379.2:c.3367G>C	ENSP00000513287.2:p.Gly1123Arg
ENST00000561514.2:c.2476G>C	ENSP00000460666.2:p.Gly826Arg
ENST00000697374.1:c.2476G>C	ENSP00000513284.1:p.Gly826Arg
ENST00000697375.1:n.4708G>C
ENST00000697376.1:c.2327G>C	ENSP00000513285.1:p.Arg776Thr
ENST00000697377.1:c.2314G>C	ENSP00000513286.1:p.Gly772Arg
ENST00000697378.1:n.3881G>C
ENST00000697379.1:c.2476G>C	ENSP00000513287.1:p.Gly826Arg
ENST00000697380.1:n.2565G>C
ENST00000697381.1:n.2056G>C
ENST00000697382.1:c.*138G>C	ENSP00000513288.1:n.*138G>C
ENST00000697383.1:c.895G>C	ENSP00000513289.1:p.Gly299Arg
ENST00000261584.9:c.3361G>C MANE Select	ENSP00000261584.4:p.Gly1121Arg
ENST00000261584.8:c.3361G>C	ENSP00000261584.4:p.Gly1121Arg
ENST00000566069.5:c.127G>C
ENST00000568219.5:c.2476G>C	ENSP00000454703.2:p.Gly826Arg
NM_024675.3:c.3361G>C , LRG_308t1:c.3361G>C	NP_078951.2:p.Gly1121Arg
XM_011545946.1:c.3367G>C	XP_011544248.1:p.Gly1123Arg
XM_011545947.1:c.3218G>C	XP_011544249.1:p.Arg1073Thr
XM_011545948.1:c.2476G>C	XP_011544250.1:p.Gly826Arg
XR_950851.1:n.4069G>C
XM_011545946.2:c.3367G>C	XP_011544248.1:p.Gly1123Arg
XM_011545947.2:c.3218G>C	XP_011544249.1:p.Arg1073Thr
XM_011545948.2:c.2476G>C	XP_011544250.1:p.Gly826Arg
XM_017023671.1:c.3130G>C	XP_016879160.1:p.Gly1044Arg
XM_017023672.2:c.3124G>C	XP_016879161.1:p.Gly1042Arg
XM_017023673.2:c.3212G>C	XP_016879162.1:p.Arg1071Thr
NM_024675.4:c.3361G>C MANE Select	NP_078951.2:p.Gly1121Arg