Canonical Allele Identifier: CA16620140

Gene: PALB2

Linked Data

• ClinVar Variation Id: 422427
• ClinVar RCV Id: RCV000479952 ; RCV001068443
• dbSNP Id: rs45532440
• gnomAD v4: 16-23630140-C-T
• MyVariant Identifiers: chr16:g.23641461C>T (hg19) ; chr16:g.23630140C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630140C>T , CM000678.2:g.23630140C>T	GRCh38
NC_000016.9:g.23641461C>T , CM000678.1:g.23641461C>T	GRCh37
NC_000016.8:g.23548962C>T	NCBI36
NG_007406.1:g.16218G>A , LRG_308:g.16218G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2020G>A	ENSP00000460666.3:p.Glu674Lys
ENST00000565038.2:c.212-865G>A	ENSP00000459882.2:n.212-865G>A
ENST00000566069.6:c.2014G>A	ENSP00000459237.2:p.Glu672Lys
ENST00000697377.2:c.2020G>A	ENSP00000513286.2:p.Glu674Lys
ENST00000697379.2:c.2020G>A	ENSP00000513287.2:p.Glu674Lys
ENST00000561514.2:c.1129G>A	ENSP00000460666.2:p.Glu377Lys
ENST00000697374.1:c.1129G>A	ENSP00000513284.1:p.Glu377Lys
ENST00000697375.1:n.3361G>A
ENST00000697376.1:c.1129G>A	ENSP00000513285.1:p.Glu377Lys
ENST00000697377.1:c.1129G>A	ENSP00000513286.1:p.Glu377Lys
ENST00000697378.1:n.2534G>A
ENST00000697379.1:c.1129G>A	ENSP00000513287.1:p.Glu377Lys
ENST00000697380.1:n.942G>A
ENST00000697381.1:n.709G>A
ENST00000697382.1:c.1129G>A	ENSP00000513288.1:p.Glu377Lys
ENST00000697383.1:c.49-865G>A	ENSP00000513289.1:n.49-865G>A
ENST00000697384.1:n.2168G>A
ENST00000261584.9:c.2014G>A MANE Select	ENSP00000261584.4:p.Glu672Lys
ENST00000261584.8:c.2014G>A	ENSP00000261584.4:p.Glu672Lys
ENST00000565038.1:c.87-865G>A
ENST00000568219.5:c.1129G>A	ENSP00000454703.2:p.Glu377Lys
NM_024675.3:c.2014G>A , LRG_308t1:c.2014G>A	NP_078951.2:p.Glu672Lys
XM_011545946.1:c.2020G>A	XP_011544248.1:p.Glu674Lys
XM_011545947.1:c.2020G>A	XP_011544249.1:p.Glu674Lys
XM_011545948.1:c.1129G>A	XP_011544250.1:p.Glu377Lys
XR_950851.1:n.2810G>A
XM_011545946.2:c.2020G>A	XP_011544248.1:p.Glu674Lys
XM_011545947.2:c.2020G>A	XP_011544249.1:p.Glu674Lys
XM_011545948.2:c.1129G>A	XP_011544250.1:p.Glu377Lys
XM_017023671.1:c.2020G>A	XP_016879160.1:p.Glu674Lys
XM_017023672.2:c.2014G>A	XP_016879161.1:p.Glu672Lys
XM_017023673.2:c.2014G>A	XP_016879162.1:p.Glu672Lys
NM_024675.4:c.2014G>A MANE Select	NP_078951.2:p.Glu672Lys