Canonical Allele Identifier: CA494175461

Gene: PALB2

Linked Data

• ClinVar Variation Id: 480260
• ClinVar RCV Id: RCV000574778 ; RCV001484965
• dbSNP Id: rs1555458175
• MyVariant Identifiers: chr16:g.23619196C>T (hg19) ; chr16:g.23607875C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607875C>T , CM000678.2:g.23607875C>T	GRCh38
NC_000016.9:g.23619196C>T , CM000678.1:g.23619196C>T	GRCh37
NC_000016.8:g.23526697C>T	NCBI36
NG_007406.1:g.38483G>A , LRG_308:g.38483G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3345G>A	ENSP00000460666.3:p.Gly1115=
ENST00000565038.2:c.*820G>A	ENSP00000459882.2:n.*820G>A
ENST00000566069.6:c.3202-4206G>A	ENSP00000459237.2:n.3202-4206G>A
ENST00000697377.2:c.3183G>A	ENSP00000513286.2:p.Gly1061=
ENST00000697379.2:c.3345G>A	ENSP00000513287.2:p.Gly1115=
ENST00000561514.2:c.2454G>A	ENSP00000460666.2:p.Gly818=
ENST00000697374.1:c.2454G>A	ENSP00000513284.1:p.Gly818=
ENST00000697375.1:n.4686G>A
ENST00000697376.1:c.2317-4206G>A	ENSP00000513285.1:n.2317-4206G>A
ENST00000697377.1:c.2292G>A	ENSP00000513286.1:p.Gly764=
ENST00000697378.1:n.3859G>A
ENST00000697379.1:c.2454G>A	ENSP00000513287.1:p.Gly818=
ENST00000697380.1:n.2543G>A
ENST00000697381.1:n.2034G>A
ENST00000697382.1:c.*116G>A	ENSP00000513288.1:n.*116G>A
ENST00000697383.1:c.873G>A	ENSP00000513289.1:p.Gly291=
ENST00000261584.9:c.3339G>A MANE Select	ENSP00000261584.4:p.Gly1113=
ENST00000261584.8:c.3339G>A	ENSP00000261584.4:p.Gly1113=
ENST00000566069.5:c.117-4206G>A
ENST00000568219.5:c.2454G>A	ENSP00000454703.2:p.Gly818=
NM_024675.3:c.3339G>A , LRG_308t1:c.3339G>A	NP_078951.2:p.Gly1113=
XM_011545946.1:c.3345G>A	XP_011544248.1:p.Gly1115=
XM_011545947.1:c.3208-4206G>A	XP_011544249.1:n.3208-4206G>A
XM_011545948.1:c.2454G>A	XP_011544250.1:p.Gly818=
XR_950851.1:n.4047G>A
XM_011545946.2:c.3345G>A	XP_011544248.1:p.Gly1115=
XM_011545947.2:c.3208-4206G>A	XP_011544249.1:n.3208-4206G>A
XM_011545948.2:c.2454G>A	XP_011544250.1:p.Gly818=
XM_017023671.1:c.3120-4206G>A	XP_016879160.1:n.3120-4206G>A
XM_017023672.2:c.3114-4206G>A	XP_016879161.1:n.3114-4206G>A
XM_017023673.2:c.3202-4206G>A	XP_016879162.1:n.3202-4206G>A
NM_024675.4:c.3339G>A MANE Select	NP_078951.2:p.Gly1113=