Canonical Allele Identifier: CA7963332

Gene: PALB2

Linked Data

• ClinVar Variation Id: 402308
• ClinVar RCV Id: RCV000454280 ; RCV000480681 ; RCV000529716
• dbSNP Id: rs755609496
• ExAC: 16:23614877 G / C
• gnomAD v2: 16-23614877-G-C
• gnomAD v4: 16-23603556-G-C
• MyVariant Identifiers: chr16:g.23614877G>C (hg19) ; chr16:g.23603556G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603556G>C , CM000678.2:g.23603556G>C	GRCh38
NC_000016.9:g.23614877G>C , CM000678.1:g.23614877G>C	GRCh37
NC_000016.8:g.23522378G>C	NCBI36
NG_007406.1:g.42802C>G , LRG_308:g.42802C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3470C>G	ENSP00000460666.3:p.Ser1157Cys
ENST00000565038.2:c.*949C>G	ENSP00000459882.2:n.*949C>G
ENST00000566069.6:c.*99C>G	ENSP00000459237.2:n.*99C>G
ENST00000697377.2:c.3308C>G	ENSP00000513286.2:p.Ser1103Cys
ENST00000697379.2:c.3470C>G	ENSP00000513287.2:p.Ser1157Cys
ENST00000561514.2:c.2579C>G	ENSP00000460666.2:p.Ser860Cys
ENST00000697374.1:c.2579C>G	ENSP00000513284.1:p.Ser860Cys
ENST00000697375.1:n.4811C>G
ENST00000697376.1:c.*99C>G	ENSP00000513285.1:n.*99C>G
ENST00000697377.1:c.2417C>G	ENSP00000513286.1:p.Ser806Cys
ENST00000697378.1:n.3984C>G
ENST00000697379.1:c.2579C>G	ENSP00000513287.1:p.Ser860Cys
ENST00000697380.1:n.2668C>G
ENST00000697381.1:n.2159C>G
ENST00000697382.1:c.*241C>G	ENSP00000513288.1:n.*241C>G
ENST00000697383.1:c.998C>G	ENSP00000513289.1:p.Ser333Cys
ENST00000261584.9:c.3464C>G MANE Select	ENSP00000261584.4:p.Ser1155Cys
ENST00000261584.8:c.3464C>G	ENSP00000261584.4:p.Ser1155Cys
ENST00000566069.5:c.230C>G
ENST00000568219.5:c.2579C>G	ENSP00000454703.2:p.Ser860Cys
NM_024675.3:c.3464C>G , LRG_308t1:c.3464C>G	NP_078951.2:p.Ser1155Cys
XM_011545946.1:c.3470C>G	XP_011544248.1:p.Ser1157Cys
XM_011545947.1:c.*99C>G	XP_011544249.1:n.*99C>G
XM_011545948.1:c.2579C>G	XP_011544250.1:p.Ser860Cys
XR_950851.1:n.4172C>G
XM_011545946.2:c.3470C>G	XP_011544248.1:p.Ser1157Cys
XM_011545947.2:c.*99C>G	XP_011544249.1:n.*99C>G
XM_011545948.2:c.2579C>G	XP_011544250.1:p.Ser860Cys
XM_017023671.1:c.3233C>G	XP_016879160.1:p.Ser1078Cys
XM_017023672.2:c.3227C>G	XP_016879161.1:p.Ser1076Cys
XM_017023673.2:c.*99C>G	XP_016879162.1:n.*99C>G
NM_024675.4:c.3464C>G MANE Select	NP_078951.2:p.Ser1155Cys