Canonical Allele Identifier: CA395141116

Gene: PALB2

Linked Data

• ClinVar Variation Id: 830197
• ClinVar RCV Id: RCV001030392 ; RCV003607400
• dbSNP Id: rs1347982621
• gnomAD v4: 16-23614011-G-A
• MyVariant Identifiers: chr16:g.23625332G>A (hg19) ; chr16:g.23614011G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614011G>A , CM000678.2:g.23614011G>A	GRCh38
NC_000016.9:g.23625332G>A , CM000678.1:g.23625332G>A	GRCh37
NC_000016.8:g.23532833G>A	NCBI36
NG_007406.1:g.32347C>T , LRG_308:g.32347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3200C>T	ENSP00000460666.3:p.Ser1067Phe
ENST00000565038.2:c.*675C>T	ENSP00000459882.2:n.*675C>T
ENST00000566069.6:c.3194C>T	ENSP00000459237.2:p.Ser1065Phe
ENST00000697377.2:c.3038C>T	ENSP00000513286.2:p.Ser1013Phe
ENST00000697379.2:c.3200C>T	ENSP00000513287.2:p.Ser1067Phe
ENST00000561514.2:c.2309C>T	ENSP00000460666.2:p.Ser770Phe
ENST00000697374.1:c.2309C>T	ENSP00000513284.1:p.Ser770Phe
ENST00000697375.1:n.4541C>T
ENST00000697376.1:c.2309C>T	ENSP00000513285.1:p.Ser770Phe
ENST00000697377.1:c.2147C>T	ENSP00000513286.1:p.Ser716Phe
ENST00000697378.1:n.3714C>T
ENST00000697379.1:c.2309C>T	ENSP00000513287.1:p.Ser770Phe
ENST00000697380.1:n.2406-5999C>T
ENST00000697381.1:n.1889C>T
ENST00000697382.1:c.2229-5999C>T	ENSP00000513288.1:n.2229-5999C>T
ENST00000697383.1:c.728C>T	ENSP00000513289.1:p.Ser243Phe
ENST00000261584.9:c.3194C>T MANE Select	ENSP00000261584.4:p.Ser1065Phe
ENST00000261584.8:c.3194C>T	ENSP00000261584.4:p.Ser1065Phe
ENST00000566069.5:c.109C>T
ENST00000568219.5:c.2309C>T	ENSP00000454703.2:p.Ser770Phe
NM_024675.3:c.3194C>T , LRG_308t1:c.3194C>T	NP_078951.2:p.Ser1065Phe
XM_011545946.1:c.3200C>T	XP_011544248.1:p.Ser1067Phe
XM_011545947.1:c.3200C>T	XP_011544249.1:p.Ser1067Phe
XM_011545948.1:c.2309C>T	XP_011544250.1:p.Ser770Phe
XR_950851.1:n.3910-5999C>T
XM_011545946.2:c.3200C>T	XP_011544248.1:p.Ser1067Phe
XM_011545947.2:c.3200C>T	XP_011544249.1:p.Ser1067Phe
XM_011545948.2:c.2309C>T	XP_011544250.1:p.Ser770Phe
XM_017023671.1:c.3119+7351C>T	XP_016879160.1:n.3119+7351C>T
XM_017023672.2:c.3113+7351C>T	XP_016879161.1:n.3113+7351C>T
XM_017023673.2:c.3194C>T	XP_016879162.1:p.Ser1065Phe
NM_024675.4:c.3194C>T MANE Select	NP_078951.2:p.Ser1065Phe