Canonical Allele Identifier: CA395138426

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2125362
• ClinVar RCV Id: RCV003040076
• dbSNP Id: rs1966406887
• MyVariant Identifiers: chr16:g.23614990C>G (hg19) ; chr16:g.23603669C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603669C>G , CM000678.2:g.23603669C>G	GRCh38
NC_000016.9:g.23614990C>G , CM000678.1:g.23614990C>G	GRCh37
NC_000016.8:g.23522491C>G	NCBI36
NG_007406.1:g.42689G>C , LRG_308:g.42689G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3357G>C	ENSP00000460666.3:p.Arg1119Ser
ENST00000565038.2:c.*836G>C	ENSP00000459882.2:n.*836G>C
ENST00000566069.6:c.3202G>C	ENSP00000459237.2:p.Val1068Leu
ENST00000697377.2:c.3195G>C	ENSP00000513286.2:p.Arg1065Ser
ENST00000697379.2:c.3357G>C	ENSP00000513287.2:p.Arg1119Ser
ENST00000561514.2:c.2466G>C	ENSP00000460666.2:p.Arg822Ser
ENST00000697374.1:c.2466G>C	ENSP00000513284.1:p.Arg822Ser
ENST00000697375.1:n.4698G>C
ENST00000697376.1:c.2317G>C	ENSP00000513285.1:p.Val773Leu
ENST00000697377.1:c.2304G>C	ENSP00000513286.1:p.Arg768Ser
ENST00000697378.1:n.3871G>C
ENST00000697379.1:c.2466G>C	ENSP00000513287.1:p.Arg822Ser
ENST00000697380.1:n.2555G>C
ENST00000697381.1:n.2046G>C
ENST00000697382.1:c.*128G>C	ENSP00000513288.1:n.*128G>C
ENST00000697383.1:c.885G>C	ENSP00000513289.1:p.Arg295Ser
ENST00000261584.9:c.3351G>C MANE Select	ENSP00000261584.4:p.Arg1117Ser
ENST00000261584.8:c.3351G>C	ENSP00000261584.4:p.Arg1117Ser
ENST00000566069.5:c.117G>C
ENST00000568219.5:c.2466G>C	ENSP00000454703.2:p.Arg822Ser
NM_024675.3:c.3351G>C , LRG_308t1:c.3351G>C	NP_078951.2:p.Arg1117Ser
XM_011545946.1:c.3357G>C	XP_011544248.1:p.Arg1119Ser
XM_011545947.1:c.3208G>C	XP_011544249.1:p.Val1070Leu
XM_011545948.1:c.2466G>C	XP_011544250.1:p.Arg822Ser
XR_950851.1:n.4059G>C
XM_011545946.2:c.3357G>C	XP_011544248.1:p.Arg1119Ser
XM_011545947.2:c.3208G>C	XP_011544249.1:p.Val1070Leu
XM_011545948.2:c.2466G>C	XP_011544250.1:p.Arg822Ser
XM_017023671.1:c.3120G>C	XP_016879160.1:p.Trp1040Cys
XM_017023672.2:c.3114G>C	XP_016879161.1:p.Trp1038Cys
XM_017023673.2:c.3202G>C	XP_016879162.1:p.Val1068Leu
NM_024675.4:c.3351G>C MANE Select	NP_078951.2:p.Arg1117Ser