Canonical Allele Identifier: CA16042148

Gene: PALB2

Linked Data

• ClinVar Variation Id: 372056
• ClinVar RCV Id: RCV000409294 ; RCV001176291 ; RCV003315425 ; RCV003477909
• dbSNP Id: rs753153576
• MyVariant Identifiers: chr16:g.23637556C>G (hg19) ; chr16:g.23626235C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626235C>G , CM000678.2:g.23626235C>G	GRCh38
NC_000016.9:g.23637556C>G , CM000678.1:g.23637556C>G	GRCh37
NC_000016.8:g.23545057C>G	NCBI36
NG_007406.1:g.20123G>C , LRG_308:g.20123G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2754+1G>C	ENSP00000460666.3:n.2754+1G>C
ENST00000565038.2:c.*229+1G>C	ENSP00000459882.2:n.*229+1G>C
ENST00000566069.6:c.2748+1G>C	ENSP00000459237.2:n.2748+1G>C
ENST00000697377.2:c.2593-2141G>C	ENSP00000513286.2:n.2593-2141G>C
ENST00000697379.2:c.2754+1G>C	ENSP00000513287.2:n.2754+1G>C
ENST00000561514.2:c.1863+1G>C	ENSP00000460666.2:n.1863+1G>C
ENST00000697374.1:c.1863+1G>C	ENSP00000513284.1:n.1863+1G>C
ENST00000697375.1:n.4095+1G>C
ENST00000697376.1:c.1863+1G>C	ENSP00000513285.1:n.1863+1G>C
ENST00000697377.1:c.1702-2141G>C	ENSP00000513286.1:n.1702-2141G>C
ENST00000697378.1:n.3268+1G>C
ENST00000697379.1:c.1863+1G>C	ENSP00000513287.1:n.1863+1G>C
ENST00000697380.1:n.2040+1G>C
ENST00000697381.1:n.1443+1G>C
ENST00000697382.1:c.1863+1G>C	ENSP00000513288.1:n.1863+1G>C
ENST00000697383.1:c.282+1G>C	ENSP00000513289.1:n.282+1G>C
ENST00000261584.9:c.2748+1G>C MANE Select	ENSP00000261584.4:n.2748+1G>C
ENST00000261584.8:c.2748+1G>C	ENSP00000261584.4:n.2748+1G>C
ENST00000565038.1:c.320+1G>C
ENST00000568219.5:c.1863+1G>C	ENSP00000454703.2:n.1863+1G>C
NM_024675.3:c.2748+1G>C , LRG_308t1:c.2748+1G>C	NP_078951.2:n.2748+1G>C
XM_011545946.1:c.2754+1G>C	XP_011544248.1:n.2754+1G>C
XM_011545947.1:c.2754+1G>C	XP_011544249.1:n.2754+1G>C
XM_011545948.1:c.1863+1G>C	XP_011544250.1:n.1863+1G>C
XR_950851.1:n.3544+1G>C
XM_011545946.2:c.2754+1G>C	XP_011544248.1:n.2754+1G>C
XM_011545947.2:c.2754+1G>C	XP_011544249.1:n.2754+1G>C
XM_011545948.2:c.1863+1G>C	XP_011544250.1:n.1863+1G>C
XM_017023671.1:c.2754+1G>C	XP_016879160.1:n.2754+1G>C
XM_017023672.2:c.2748+1G>C	XP_016879161.1:n.2748+1G>C
XM_017023673.2:c.2748+1G>C	XP_016879162.1:n.2748+1G>C
NM_024675.4:c.2748+1G>C MANE Select	NP_078951.2:n.2748+1G>C