Canonical Allele Identifier: CA395140116

Gene: PALB2

Linked Data

• gnomAD v4: 16-23608008-A-C
• MyVariant Identifiers: chr16:g.23619329A>C (hg19) ; chr16:g.23608008A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23608008A>C , CM000678.2:g.23608008A>C	GRCh38
NC_000016.9:g.23619329A>C , CM000678.1:g.23619329A>C	GRCh37
NC_000016.8:g.23526830A>C	NCBI36
NG_007406.1:g.38350T>G , LRG_308:g.38350T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3212T>G	ENSP00000460666.3:p.Leu1071Arg
ENST00000565038.2:c.*687T>G	ENSP00000459882.2:n.*687T>G
ENST00000566069.6:c.3202-4339T>G	ENSP00000459237.2:n.3202-4339T>G
ENST00000697377.2:c.3050T>G	ENSP00000513286.2:p.Leu1017Arg
ENST00000697379.2:c.3212T>G	ENSP00000513287.2:p.Leu1071Arg
ENST00000561514.2:c.2321T>G	ENSP00000460666.2:p.Leu774Arg
ENST00000697374.1:c.2321T>G	ENSP00000513284.1:p.Leu774Arg
ENST00000697375.1:n.4553T>G
ENST00000697376.1:c.2317-4339T>G	ENSP00000513285.1:n.2317-4339T>G
ENST00000697377.1:c.2159T>G	ENSP00000513286.1:p.Leu720Arg
ENST00000697378.1:n.3726T>G
ENST00000697379.1:c.2321T>G	ENSP00000513287.1:p.Leu774Arg
ENST00000697380.1:n.2410T>G
ENST00000697381.1:n.1901T>G
ENST00000697382.1:c.2233T>G	ENSP00000513288.1:p.Phe745Val
ENST00000697383.1:c.740T>G	ENSP00000513289.1:p.Leu247Arg
ENST00000261584.9:c.3206T>G MANE Select	ENSP00000261584.4:p.Leu1069Arg
ENST00000261584.8:c.3206T>G	ENSP00000261584.4:p.Leu1069Arg
ENST00000566069.5:c.117-4339T>G
ENST00000568219.5:c.2321T>G	ENSP00000454703.2:p.Leu774Arg
NM_024675.3:c.3206T>G , LRG_308t1:c.3206T>G	NP_078951.2:p.Leu1069Arg
XM_011545946.1:c.3212T>G	XP_011544248.1:p.Leu1071Arg
XM_011545947.1:c.3208-4339T>G	XP_011544249.1:n.3208-4339T>G
XM_011545948.1:c.2321T>G	XP_011544250.1:p.Leu774Arg
XR_950851.1:n.3914T>G
XM_011545946.2:c.3212T>G	XP_011544248.1:p.Leu1071Arg
XM_011545947.2:c.3208-4339T>G	XP_011544249.1:n.3208-4339T>G
XM_011545948.2:c.2321T>G	XP_011544250.1:p.Leu774Arg
XM_017023671.1:c.3120-4339T>G	XP_016879160.1:n.3120-4339T>G
XM_017023672.2:c.3114-4339T>G	XP_016879161.1:n.3114-4339T>G
XM_017023673.2:c.3202-4339T>G	XP_016879162.1:n.3202-4339T>G
NM_024675.4:c.3206T>G MANE Select	NP_078951.2:p.Leu1069Arg