Canonical Allele Identifier: CA16615235

Gene: PALB2

Linked Data

• ClinVar Variation Id: 415977
• ClinVar RCV Id: RCV001394414
• dbSNP Id: rs1060504703
• gnomAD v4: 16-23629652-A-G
• MyVariant Identifiers: chr16:g.23640973A>G (hg19) ; chr16:g.23629652A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23629652A>G , CM000678.2:g.23629652A>G	GRCh38
NC_000016.9:g.23640973A>G , CM000678.1:g.23640973A>G	GRCh37
NC_000016.8:g.23548474A>G	NCBI36
NG_007406.1:g.16706T>C , LRG_308:g.16706T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2508T>C	ENSP00000460666.3:p.His836=
ENST00000565038.2:c.212-377T>C	ENSP00000459882.2:n.212-377T>C
ENST00000566069.6:c.2502T>C	ENSP00000459237.2:p.His834=
ENST00000697377.2:c.2508T>C	ENSP00000513286.2:p.His836=
ENST00000697379.2:c.2508T>C	ENSP00000513287.2:p.His836=
ENST00000561514.2:c.1617T>C	ENSP00000460666.2:p.His539=
ENST00000697374.1:c.1617T>C	ENSP00000513284.1:p.His539=
ENST00000697375.1:n.3849T>C
ENST00000697376.1:c.1617T>C	ENSP00000513285.1:p.His539=
ENST00000697377.1:c.1617T>C	ENSP00000513286.1:p.His539=
ENST00000697378.1:n.3022T>C
ENST00000697379.1:c.1617T>C	ENSP00000513287.1:p.His539=
ENST00000697380.1:n.1430T>C
ENST00000697381.1:n.1197T>C
ENST00000697382.1:c.1617T>C	ENSP00000513288.1:p.His539=
ENST00000697383.1:c.49-377T>C	ENSP00000513289.1:n.49-377T>C
ENST00000697384.1:n.2656T>C
ENST00000261584.9:c.2502T>C MANE Select	ENSP00000261584.4:p.His834=
ENST00000261584.8:c.2502T>C	ENSP00000261584.4:p.His834=
ENST00000565038.1:c.87-377T>C
ENST00000568219.5:c.1617T>C	ENSP00000454703.2:p.His539=
NM_024675.3:c.2502T>C , LRG_308t1:c.2502T>C	NP_078951.2:p.His834=
XM_011545946.1:c.2508T>C	XP_011544248.1:p.His836=
XM_011545947.1:c.2508T>C	XP_011544249.1:p.His836=
XM_011545948.1:c.1617T>C	XP_011544250.1:p.His539=
XR_950851.1:n.3298T>C
XM_011545946.2:c.2508T>C	XP_011544248.1:p.His836=
XM_011545947.2:c.2508T>C	XP_011544249.1:p.His836=
XM_011545948.2:c.1617T>C	XP_011544250.1:p.His539=
XM_017023671.1:c.2508T>C	XP_016879160.1:p.His836=
XM_017023672.2:c.2502T>C	XP_016879161.1:p.His834=
XM_017023673.2:c.2502T>C	XP_016879162.1:p.His834=
NM_024675.4:c.2502T>C MANE Select	NP_078951.2:p.His834=