Canonical Allele Identifier: CA16614907

Gene: PALB2

Linked Data

• ClinVar Variation Id: 410184
• ClinVar RCV Id: RCV000456981 ; RCV001020463
• dbSNP Id: rs765520187
• gnomAD v4: 16-23641124-C-T
• MyVariant Identifiers: chr16:g.23652445C>T (hg19) ; chr16:g.23641124C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641124C>T , CM000678.2:g.23641124C>T	GRCh38
NC_000016.9:g.23652445C>T , CM000678.1:g.23652445C>T	GRCh37
NC_000016.8:g.23559946C>T	NCBI36
NG_007406.1:g.5234G>A , LRG_308:g.5234G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-819G>A	ENSP00000460666.3:n.-819G>A
ENST00000565038.2:c.34G>A	ENSP00000459882.2:p.Glu12Lys
ENST00000566069.6:c.34G>A	ENSP00000459237.2:p.Glu12Lys
ENST00000697377.2:c.-206G>A	ENSP00000513286.2:n.-206G>A
ENST00000697379.2:c.-112G>A	ENSP00000513287.2:n.-112G>A
ENST00000561514.2:c.-1710G>A	ENSP00000460666.2:n.-1710G>A
ENST00000697374.1:c.-1301G>A	ENSP00000513284.1:n.-1301G>A
ENST00000697376.1:c.-1022G>A	ENSP00000513285.1:n.-1022G>A
ENST00000697377.1:c.-1097G>A	ENSP00000513286.1:n.-1097G>A
ENST00000697379.1:c.-1003G>A	ENSP00000513287.1:n.-1003G>A
ENST00000697382.1:c.-1761G>A	ENSP00000513288.1:n.-1761G>A
ENST00000697383.1:c.34G>A	ENSP00000513289.1:p.Glu12Lys
ENST00000697384.1:n.188G>A
ENST00000261584.9:c.34G>A MANE Select	ENSP00000261584.4:p.Glu12Lys
ENST00000261584.8:c.34G>A	ENSP00000261584.4:p.Glu12Lys
ENST00000567003.1:n.178G>A
ENST00000568219.5:c.-838+3G>A	ENSP00000454703.2:n.-838+3G>A
NM_024675.3:c.34G>A , LRG_308t1:c.34G>A	NP_078951.2:p.Glu12Lys
XM_011545948.1:c.-986G>A	XP_011544250.1:n.-986G>A
XM_011545946.2:c.-819G>A	XP_011544248.1:n.-819G>A
XM_011545947.2:c.-819G>A	XP_011544249.1:n.-819G>A
XM_011545948.2:c.-986G>A	XP_011544250.1:n.-986G>A
XM_017023671.1:c.-819G>A	XP_016879160.1:n.-819G>A
XM_017023672.2:c.34G>A	XP_016879161.1:p.Glu12Lys
XM_017023673.2:c.34G>A	XP_016879162.1:p.Glu12Lys
NM_024675.4:c.34G>A MANE Select	NP_078951.2:p.Glu12Lys