Canonical Allele Identifier: CA494175487

Gene: PALB2

Linked Data

• dbSNP Id: rs515726113
• MyVariant Identifiers: chr16:g.23619214C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607893C>G , CM000678.2:g.23607893C>G	GRCh38
NC_000016.9:g.23619214C>G , CM000678.1:g.23619214C>G	GRCh37
NC_000016.8:g.23526715C>G	NCBI36
NG_007406.1:g.38465G>C , LRG_308:g.38465G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3327G>C	ENSP00000460666.3:p.Leu1109=
ENST00000565038.2:c.*802G>C	ENSP00000459882.2:n.*802G>C
ENST00000566069.6:c.3202-4224G>C	ENSP00000459237.2:n.3202-4224G>C
ENST00000697377.2:c.3165G>C	ENSP00000513286.2:p.Leu1055=
ENST00000697379.2:c.3327G>C	ENSP00000513287.2:p.Leu1109=
ENST00000561514.2:c.2436G>C	ENSP00000460666.2:p.Leu812=
ENST00000697374.1:c.2436G>C	ENSP00000513284.1:p.Leu812=
ENST00000697375.1:n.4668G>C
ENST00000697376.1:c.2317-4224G>C	ENSP00000513285.1:n.2317-4224G>C
ENST00000697377.1:c.2274G>C	ENSP00000513286.1:p.Leu758=
ENST00000697378.1:n.3841G>C
ENST00000697379.1:c.2436G>C	ENSP00000513287.1:p.Leu812=
ENST00000697380.1:n.2525G>C
ENST00000697381.1:n.2016G>C
ENST00000697382.1:c.*98G>C	ENSP00000513288.1:n.*98G>C
ENST00000697383.1:c.855G>C	ENSP00000513289.1:p.Leu285=
ENST00000261584.9:c.3321G>C MANE Select	ENSP00000261584.4:p.Leu1107=
ENST00000261584.8:c.3321G>C	ENSP00000261584.4:p.Leu1107=
ENST00000566069.5:c.117-4224G>C
ENST00000568219.5:c.2436G>C	ENSP00000454703.2:p.Leu812=
NM_024675.3:c.3321G>C , LRG_308t1:c.3321G>C	NP_078951.2:p.Leu1107=
XM_011545946.1:c.3327G>C	XP_011544248.1:p.Leu1109=
XM_011545947.1:c.3208-4224G>C	XP_011544249.1:n.3208-4224G>C
XM_011545948.1:c.2436G>C	XP_011544250.1:p.Leu812=
XR_950851.1:n.4029G>C
XM_011545946.2:c.3327G>C	XP_011544248.1:p.Leu1109=
XM_011545947.2:c.3208-4224G>C	XP_011544249.1:n.3208-4224G>C
XM_011545948.2:c.2436G>C	XP_011544250.1:p.Leu812=
XM_017023671.1:c.3120-4224G>C	XP_016879160.1:n.3120-4224G>C
XM_017023672.2:c.3114-4224G>C	XP_016879161.1:n.3114-4224G>C
XM_017023673.2:c.3202-4224G>C	XP_016879162.1:n.3202-4224G>C
NM_024675.4:c.3321G>C MANE Select	NP_078951.2:p.Leu1107=