Canonical Allele Identifier: CA161349

Gene: PALB2

Linked Data

• ClinVar Variation Id: 128133
• ClinVar RCV Id: RCV000116087 ; RCV000121758 ; RCV000318539 ; RCV000656936 ; RCV000989556 ; RCV001030647 ; RCV001356207 ; RCV001798359 ; RCV003905107
• dbSNP Id: rs587778587
• ExAC: 16:23640966 C / T
• gnomAD v2: 16-23640966-C-T
• gnomAD v3: 16-23629645-C-T
• gnomAD v4: 16-23629645-C-T
• COSMIC: COSM3279835
• MyVariant Identifiers: chr16:g.23640966C>T (hg19) ; chr16:g.23629645C>T (hg38)
• PubMed: PMID:24728327

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629645C>T , CM000678.2:g.23629645C>T	GRCh38
NC_000016.9:g.23640966C>T , CM000678.1:g.23640966C>T	GRCh37
NC_000016.8:g.23548467C>T	NCBI36
NG_007406.1:g.16713G>A , LRG_308:g.16713G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2515G>A	ENSP00000460666.3:p.Glu839Lys
ENST00000565038.2:c.212-370G>A	ENSP00000459882.2:n.212-370G>A
ENST00000566069.6:c.2509G>A	ENSP00000459237.2:p.Glu837Lys
ENST00000697377.2:c.2515G>A	ENSP00000513286.2:p.Glu839Lys
ENST00000697379.2:c.2515G>A	ENSP00000513287.2:p.Glu839Lys
ENST00000561514.2:c.1624G>A	ENSP00000460666.2:p.Glu542Lys
ENST00000697374.1:c.1624G>A	ENSP00000513284.1:p.Glu542Lys
ENST00000697375.1:n.3856G>A
ENST00000697376.1:c.1624G>A	ENSP00000513285.1:p.Glu542Lys
ENST00000697377.1:c.1624G>A	ENSP00000513286.1:p.Glu542Lys
ENST00000697378.1:n.3029G>A
ENST00000697379.1:c.1624G>A	ENSP00000513287.1:p.Glu542Lys
ENST00000697380.1:n.1437G>A
ENST00000697381.1:n.1204G>A
ENST00000697382.1:c.1624G>A	ENSP00000513288.1:p.Glu542Lys
ENST00000697383.1:c.49-370G>A	ENSP00000513289.1:n.49-370G>A
ENST00000697384.1:n.2663G>A
ENST00000261584.9:c.2509G>A MANE Select	ENSP00000261584.4:p.Glu837Lys
ENST00000261584.8:c.2509G>A	ENSP00000261584.4:p.Glu837Lys
ENST00000565038.1:c.87-370G>A
ENST00000568219.5:c.1624G>A	ENSP00000454703.2:p.Glu542Lys
NM_024675.3:c.2509G>A , LRG_308t1:c.2509G>A	NP_078951.2:p.Glu837Lys
XM_011545946.1:c.2515G>A	XP_011544248.1:p.Glu839Lys
XM_011545947.1:c.2515G>A	XP_011544249.1:p.Glu839Lys
XM_011545948.1:c.1624G>A	XP_011544250.1:p.Glu542Lys
XR_950851.1:n.3305G>A
XM_011545946.2:c.2515G>A	XP_011544248.1:p.Glu839Lys
XM_011545947.2:c.2515G>A	XP_011544249.1:p.Glu839Lys
XM_011545948.2:c.1624G>A	XP_011544250.1:p.Glu542Lys
XM_017023671.1:c.2515G>A	XP_016879160.1:p.Glu839Lys
XM_017023672.2:c.2509G>A	XP_016879161.1:p.Glu837Lys
XM_017023673.2:c.2509G>A	XP_016879162.1:p.Glu837Lys
NM_024675.4:c.2509G>A MANE Select	NP_078951.2:p.Glu837Lys