Canonical Allele Identifier: CA269558

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126674
• ClinVar RCV Id: RCV001030104
• dbSNP Id: rs515726092
• MyVariant Identifiers: chr16:g.23652453A>T (hg19) ; chr16:g.23641132A>T (hg38)
• PubMed: PMID:22310028

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641132A>T , CM000678.2:g.23641132A>T	GRCh38
NC_000016.9:g.23652453A>T , CM000678.1:g.23652453A>T	GRCh37
NC_000016.8:g.23559954A>T	NCBI36
NG_007406.1:g.5226T>A , LRG_308:g.5226T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-827T>A	ENSP00000460666.3:n.-827T>A
ENST00000565038.2:c.26T>A	ENSP00000459882.2:p.Leu9His
ENST00000566069.6:c.26T>A	ENSP00000459237.2:p.Leu9His
ENST00000697377.2:c.-214T>A	ENSP00000513286.2:n.-214T>A
ENST00000697379.2:c.-120T>A	ENSP00000513287.2:n.-120T>A
ENST00000561514.2:c.-1718T>A	ENSP00000460666.2:n.-1718T>A
ENST00000697374.1:c.-1309T>A	ENSP00000513284.1:n.-1309T>A
ENST00000697376.1:c.-1030T>A	ENSP00000513285.1:n.-1030T>A
ENST00000697377.1:c.-1105T>A	ENSP00000513286.1:n.-1105T>A
ENST00000697379.1:c.-1011T>A	ENSP00000513287.1:n.-1011T>A
ENST00000697382.1:c.-1769T>A	ENSP00000513288.1:n.-1769T>A
ENST00000697383.1:c.26T>A	ENSP00000513289.1:p.Leu9His
ENST00000697384.1:n.180T>A
ENST00000261584.9:c.26T>A MANE Select	ENSP00000261584.4:p.Leu9His
ENST00000261584.8:c.26T>A	ENSP00000261584.4:p.Leu9His
ENST00000567003.1:n.170T>A
ENST00000568219.5:c.-843T>A	ENSP00000454703.2:n.-843T>A
NM_024675.3:c.26T>A , LRG_308t1:c.26T>A	NP_078951.2:p.Leu9His
XM_011545948.1:c.-994T>A	XP_011544250.1:n.-994T>A
XM_011545946.2:c.-827T>A	XP_011544248.1:n.-827T>A
XM_011545947.2:c.-827T>A	XP_011544249.1:n.-827T>A
XM_011545948.2:c.-994T>A	XP_011544250.1:n.-994T>A
XM_017023671.1:c.-827T>A	XP_016879160.1:n.-827T>A
XM_017023672.2:c.26T>A	XP_016879161.1:p.Leu9His
XM_017023673.2:c.26T>A	XP_016879162.1:p.Leu9His
NM_024675.4:c.26T>A MANE Select	NP_078951.2:p.Leu9His