Canonical Allele Identifier: CA7963883

Gene: PALB2

Linked Data

• ClinVar Variation Id: 492224
• ClinVar RCV Id: RCV000581991 ; RCV001860095
• dbSNP Id: rs201765609
• ExAC: 16:23652411 C / T
• gnomAD v2: 16-23652411-C-T
• gnomAD v3: 16-23641090-C-T
• gnomAD v4: 16-23641090-C-T
• MyVariant Identifiers: chr16:g.23652411C>T (hg19) ; chr16:g.23641090C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641090C>T , CM000678.2:g.23641090C>T	GRCh38
NC_000016.9:g.23652411C>T , CM000678.1:g.23652411C>T	GRCh37
NC_000016.8:g.23559912C>T	NCBI36
NG_007406.1:g.5268G>A , LRG_308:g.5268G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-785G>A	ENSP00000460666.3:n.-785G>A
ENST00000565038.2:c.48+20G>A	ENSP00000459882.2:n.48+20G>A
ENST00000566069.6:c.48+20G>A	ENSP00000459237.2:n.48+20G>A
ENST00000697377.2:c.-192+20G>A	ENSP00000513286.2:n.-192+20G>A
ENST00000697379.2:c.-98+20G>A	ENSP00000513287.2:n.-98+20G>A
ENST00000561514.2:c.-1676G>A	ENSP00000460666.2:n.-1676G>A
ENST00000697374.1:c.-1267G>A	ENSP00000513284.1:n.-1267G>A
ENST00000697376.1:c.-1008+20G>A	ENSP00000513285.1:n.-1008+20G>A
ENST00000697377.1:c.-1083+20G>A	ENSP00000513286.1:n.-1083+20G>A
ENST00000697379.1:c.-989+20G>A	ENSP00000513287.1:n.-989+20G>A
ENST00000697382.1:c.-1727G>A	ENSP00000513288.1:n.-1727G>A
ENST00000697383.1:c.48+20G>A	ENSP00000513289.1:n.48+20G>A
ENST00000697384.1:n.202+20G>A
ENST00000261584.9:c.48+20G>A MANE Select	ENSP00000261584.4:n.48+20G>A
ENST00000261584.8:c.48+20G>A	ENSP00000261584.4:n.48+20G>A
ENST00000567003.1:n.192+20G>A
ENST00000568219.5:c.-838+37G>A	ENSP00000454703.2:n.-838+37G>A
NM_024675.3:c.48+20G>A , LRG_308t1:c.48+20G>A	NP_078951.2:n.48+20G>A
XM_011545946.1:c.-785G>A	XP_011544248.1:n.-785G>A
XM_011545947.1:c.-785G>A	XP_011544249.1:n.-785G>A
XM_011545948.1:c.-972+20G>A	XP_011544250.1:n.-972+20G>A
XR_950851.1:n.6G>A
XM_011545946.2:c.-785G>A	XP_011544248.1:n.-785G>A
XM_011545947.2:c.-785G>A	XP_011544249.1:n.-785G>A
XM_011545948.2:c.-972+20G>A	XP_011544250.1:n.-972+20G>A
XM_017023671.1:c.-785G>A	XP_016879160.1:n.-785G>A
XM_017023672.2:c.48+20G>A	XP_016879161.1:n.48+20G>A
XM_017023673.2:c.48+20G>A	XP_016879162.1:n.48+20G>A
NM_024675.4:c.48+20G>A MANE Select	NP_078951.2:n.48+20G>A