Canonical Allele Identifier: CA395125488

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1788336
• ClinVar RCV Id: RCV002420207 ; RCV003101162
• dbSNP Id: rs1555460431
• gnomAD v3: 16-23629909-C-T
• gnomAD v4: 16-23629909-C-T
• MyVariant Identifiers: chr16:g.23641230C>T (hg19) ; chr16:g.23629909C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629909C>T , CM000678.2:g.23629909C>T	GRCh38
NC_000016.9:g.23641230C>T , CM000678.1:g.23641230C>T	GRCh37
NC_000016.8:g.23548731C>T	NCBI36
NG_007406.1:g.16449G>A , LRG_308:g.16449G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2251G>A	ENSP00000460666.3:p.Glu751Lys
ENST00000565038.2:c.212-634G>A	ENSP00000459882.2:n.212-634G>A
ENST00000566069.6:c.2245G>A	ENSP00000459237.2:p.Glu749Lys
ENST00000697377.2:c.2251G>A	ENSP00000513286.2:p.Glu751Lys
ENST00000697379.2:c.2251G>A	ENSP00000513287.2:p.Glu751Lys
ENST00000561514.2:c.1360G>A	ENSP00000460666.2:p.Glu454Lys
ENST00000697374.1:c.1360G>A	ENSP00000513284.1:p.Glu454Lys
ENST00000697375.1:n.3592G>A
ENST00000697376.1:c.1360G>A	ENSP00000513285.1:p.Glu454Lys
ENST00000697377.1:c.1360G>A	ENSP00000513286.1:p.Glu454Lys
ENST00000697378.1:n.2765G>A
ENST00000697379.1:c.1360G>A	ENSP00000513287.1:p.Glu454Lys
ENST00000697380.1:n.1173G>A
ENST00000697381.1:n.940G>A
ENST00000697382.1:c.1360G>A	ENSP00000513288.1:p.Glu454Lys
ENST00000697383.1:c.49-634G>A	ENSP00000513289.1:n.49-634G>A
ENST00000697384.1:n.2399G>A
ENST00000261584.9:c.2245G>A MANE Select	ENSP00000261584.4:p.Glu749Lys
ENST00000261584.8:c.2245G>A	ENSP00000261584.4:p.Glu749Lys
ENST00000565038.1:c.87-634G>A
ENST00000568219.5:c.1360G>A	ENSP00000454703.2:p.Glu454Lys
NM_024675.3:c.2245G>A , LRG_308t1:c.2245G>A	NP_078951.2:p.Glu749Lys
XM_011545946.1:c.2251G>A	XP_011544248.1:p.Glu751Lys
XM_011545947.1:c.2251G>A	XP_011544249.1:p.Glu751Lys
XM_011545948.1:c.1360G>A	XP_011544250.1:p.Glu454Lys
XR_950851.1:n.3041G>A
XM_011545946.2:c.2251G>A	XP_011544248.1:p.Glu751Lys
XM_011545947.2:c.2251G>A	XP_011544249.1:p.Glu751Lys
XM_011545948.2:c.1360G>A	XP_011544250.1:p.Glu454Lys
XM_017023671.1:c.2251G>A	XP_016879160.1:p.Glu751Lys
XM_017023672.2:c.2245G>A	XP_016879161.1:p.Glu749Lys
XM_017023673.2:c.2245G>A	XP_016879162.1:p.Glu749Lys
NM_024675.4:c.2245G>A MANE Select	NP_078951.2:p.Glu749Lys