Canonical Allele Identifier: CA294407

Gene: PALB2

Linked Data

• ClinVar Variation Id: 142468
• ClinVar RCV Id: RCV000131600 ; RCV000205368 ; RCV000212763
• dbSNP Id: rs587782483
• gnomAD v2: 16-23652469-G-A
• gnomAD v3: 16-23641148-G-A
• gnomAD v4: 16-23641148-G-A
• MyVariant Identifiers: chr16:g.23652469G>A (hg19) ; chr16:g.23641148G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641148G>A , CM000678.2:g.23641148G>A	GRCh38
NC_000016.9:g.23652469G>A , CM000678.1:g.23652469G>A	GRCh37
NC_000016.8:g.23559970G>A	NCBI36
NG_007406.1:g.5210C>T , LRG_308:g.5210C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-843C>T	ENSP00000460666.3:n.-843C>T
ENST00000565038.2:c.10C>T	ENSP00000459882.2:p.Pro4Ser
ENST00000566069.6:c.10C>T	ENSP00000459237.2:p.Pro4Ser
ENST00000697377.2:c.-230C>T	ENSP00000513286.2:n.-230C>T
ENST00000697379.2:c.-136C>T	ENSP00000513287.2:n.-136C>T
ENST00000561514.2:c.-1734C>T	ENSP00000460666.2:n.-1734C>T
ENST00000697374.1:c.-1325C>T	ENSP00000513284.1:n.-1325C>T
ENST00000697376.1:c.-1046C>T	ENSP00000513285.1:n.-1046C>T
ENST00000697377.1:c.-1121C>T	ENSP00000513286.1:n.-1121C>T
ENST00000697379.1:c.-1027C>T	ENSP00000513287.1:n.-1027C>T
ENST00000697382.1:c.-1785C>T	ENSP00000513288.1:n.-1785C>T
ENST00000697383.1:c.10C>T	ENSP00000513289.1:p.Pro4Ser
ENST00000697384.1:n.164C>T
ENST00000261584.9:c.10C>T MANE Select	ENSP00000261584.4:p.Pro4Ser
ENST00000261584.8:c.10C>T	ENSP00000261584.4:p.Pro4Ser
ENST00000567003.1:n.154C>T
ENST00000568219.5:c.-859C>T	ENSP00000454703.2:n.-859C>T
NM_024675.3:c.10C>T , LRG_308t1:c.10C>T	NP_078951.2:p.Pro4Ser
XM_011545948.1:c.-1010C>T	XP_011544250.1:n.-1010C>T
XM_011545946.2:c.-843C>T	XP_011544248.1:n.-843C>T
XM_011545947.2:c.-843C>T	XP_011544249.1:n.-843C>T
XM_011545948.2:c.-1010C>T	XP_011544250.1:n.-1010C>T
XM_017023671.1:c.-843C>T	XP_016879160.1:n.-843C>T
XM_017023672.2:c.10C>T	XP_016879161.1:p.Pro4Ser
XM_017023673.2:c.10C>T	XP_016879162.1:p.Pro4Ser
NM_024675.4:c.10C>T MANE Select	NP_078951.2:p.Pro4Ser