Canonical Allele Identifier: CA395141286

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1798683
• ClinVar RCV Id: RCV002435654 ; RCV003102964
• dbSNP Id: rs756519825
• MyVariant Identifiers: chr16:g.23652477A>C (hg19) ; chr16:g.23641156A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641156A>C , CM000678.2:g.23641156A>C	GRCh38
NC_000016.9:g.23652477A>C , CM000678.1:g.23652477A>C	GRCh37
NC_000016.8:g.23559978A>C	NCBI36
NG_007406.1:g.5202T>G , LRG_308:g.5202T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.-851T>G	ENSP00000460666.3:n.-851T>G
ENST00000565038.2:c.2T>G	ENSP00000459882.2:p.Met1Arg
ENST00000566069.6:c.2T>G	ENSP00000459237.2:p.Met1Arg
ENST00000697377.2:c.-238T>G	ENSP00000513286.2:n.-238T>G
ENST00000697379.2:c.-144T>G	ENSP00000513287.2:n.-144T>G
ENST00000561514.2:c.-1742T>G	ENSP00000460666.2:n.-1742T>G
ENST00000697374.1:c.-1333T>G	ENSP00000513284.1:n.-1333T>G
ENST00000697376.1:c.-1054T>G	ENSP00000513285.1:n.-1054T>G
ENST00000697377.1:c.-1129T>G	ENSP00000513286.1:n.-1129T>G
ENST00000697379.1:c.-1035T>G	ENSP00000513287.1:n.-1035T>G
ENST00000697382.1:c.-1793T>G	ENSP00000513288.1:n.-1793T>G
ENST00000697383.1:c.2T>G	ENSP00000513289.1:p.Met1Arg
ENST00000697384.1:n.156T>G
ENST00000261584.9:c.2T>G MANE Select	ENSP00000261584.4:p.Met1Arg
ENST00000261584.8:c.2T>G	ENSP00000261584.4:p.Met1Arg
ENST00000567003.1:n.146T>G
ENST00000568219.5:c.-867T>G	ENSP00000454703.2:n.-867T>G
NM_024675.3:c.2T>G , LRG_308t1:c.2T>G	NP_078951.2:p.Met1Arg
XM_011545948.1:c.-1018T>G	XP_011544250.1:n.-1018T>G
XM_011545946.2:c.-851T>G	XP_011544248.1:n.-851T>G
XM_011545947.2:c.-851T>G	XP_011544249.1:n.-851T>G
XM_011545948.2:c.-1018T>G	XP_011544250.1:n.-1018T>G
XM_017023671.1:c.-851T>G	XP_016879160.1:n.-851T>G
XM_017023672.2:c.2T>G	XP_016879161.1:p.Met1Arg
XM_017023673.2:c.2T>G	XP_016879162.1:p.Met1Arg
NM_024675.4:c.2T>G MANE Select	NP_078951.2:p.Met1Arg