Canonical Allele Identifier: CA494173834

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1609031
• ClinVar RCV Id: RCV002149999
• dbSNP Id: rs1966406468
• gnomAD v3: 16-23603663-C-T
• gnomAD v4: 16-23603663-C-T
• MyVariant Identifiers: chr16:g.23614984C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603663C>T , CM000678.2:g.23603663C>T	GRCh38
NC_000016.9:g.23614984C>T , CM000678.1:g.23614984C>T	GRCh37
NC_000016.8:g.23522485C>T	NCBI36
NG_007406.1:g.42695G>A , LRG_308:g.42695G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3363G>A	ENSP00000460666.3:p.Leu1121=
ENST00000565038.2:c.*842G>A	ENSP00000459882.2:n.*842G>A
ENST00000566069.6:c.3208G>A	ENSP00000459237.2:p.Gly1070Arg
ENST00000697377.2:c.3201G>A	ENSP00000513286.2:p.Leu1067=
ENST00000697379.2:c.3363G>A	ENSP00000513287.2:p.Leu1121=
ENST00000561514.2:c.2472G>A	ENSP00000460666.2:p.Leu824=
ENST00000697374.1:c.2472G>A	ENSP00000513284.1:p.Leu824=
ENST00000697375.1:n.4704G>A
ENST00000697376.1:c.2323G>A	ENSP00000513285.1:p.Gly775Arg
ENST00000697377.1:c.2310G>A	ENSP00000513286.1:p.Leu770=
ENST00000697378.1:n.3877G>A
ENST00000697379.1:c.2472G>A	ENSP00000513287.1:p.Leu824=
ENST00000697380.1:n.2561G>A
ENST00000697381.1:n.2052G>A
ENST00000697382.1:c.*134G>A	ENSP00000513288.1:n.*134G>A
ENST00000697383.1:c.891G>A	ENSP00000513289.1:p.Leu297=
ENST00000261584.9:c.3357G>A MANE Select	ENSP00000261584.4:p.Leu1119=
ENST00000261584.8:c.3357G>A	ENSP00000261584.4:p.Leu1119=
ENST00000566069.5:c.123G>A
ENST00000568219.5:c.2472G>A	ENSP00000454703.2:p.Leu824=
NM_024675.3:c.3357G>A , LRG_308t1:c.3357G>A	NP_078951.2:p.Leu1119=
XM_011545946.1:c.3363G>A	XP_011544248.1:p.Leu1121=
XM_011545947.1:c.3214G>A	XP_011544249.1:p.Gly1072Arg
XM_011545948.1:c.2472G>A	XP_011544250.1:p.Leu824=
XR_950851.1:n.4065G>A
XM_011545946.2:c.3363G>A	XP_011544248.1:p.Leu1121=
XM_011545947.2:c.3214G>A	XP_011544249.1:p.Gly1072Arg
XM_011545948.2:c.2472G>A	XP_011544250.1:p.Leu824=
XM_017023671.1:c.3126G>A	XP_016879160.1:p.Leu1042=
XM_017023672.2:c.3120G>A	XP_016879161.1:p.Leu1040=
XM_017023673.2:c.3208G>A	XP_016879162.1:p.Gly1070Arg
NM_024675.4:c.3357G>A MANE Select	NP_078951.2:p.Leu1119=