Canonical Allele Identifier: CA395141047

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1059709
• ClinVar RCV Id: RCV001369054
• dbSNP Id: rs876660538
• gnomAD v3: 16-23641119-C-G
• gnomAD v4: 16-23641119-C-G
• MyVariant Identifiers: chr16:g.23652440C>G (hg19) ; chr16:g.23641119C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641119C>G , CM000678.2:g.23641119C>G	GRCh38
NC_000016.9:g.23652440C>G , CM000678.1:g.23652440C>G	GRCh37
NC_000016.8:g.23559941C>G	NCBI36
NG_007406.1:g.5239G>C , LRG_308:g.5239G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-814G>C	ENSP00000460666.3:n.-814G>C
ENST00000565038.2:c.39G>C	ENSP00000459882.2:p.Glu13Asp
ENST00000566069.6:c.39G>C	ENSP00000459237.2:p.Glu13Asp
ENST00000697377.2:c.-201G>C	ENSP00000513286.2:n.-201G>C
ENST00000697379.2:c.-107G>C	ENSP00000513287.2:n.-107G>C
ENST00000561514.2:c.-1705G>C	ENSP00000460666.2:n.-1705G>C
ENST00000697374.1:c.-1296G>C	ENSP00000513284.1:n.-1296G>C
ENST00000697376.1:c.-1017G>C	ENSP00000513285.1:n.-1017G>C
ENST00000697377.1:c.-1092G>C	ENSP00000513286.1:n.-1092G>C
ENST00000697379.1:c.-998G>C	ENSP00000513287.1:n.-998G>C
ENST00000697382.1:c.-1756G>C	ENSP00000513288.1:n.-1756G>C
ENST00000697383.1:c.39G>C	ENSP00000513289.1:p.Glu13Asp
ENST00000697384.1:n.193G>C
ENST00000261584.9:c.39G>C MANE Select	ENSP00000261584.4:p.Glu13Asp
ENST00000261584.8:c.39G>C	ENSP00000261584.4:p.Glu13Asp
ENST00000567003.1:n.183G>C
ENST00000568219.5:c.-838+8G>C	ENSP00000454703.2:n.-838+8G>C
NM_024675.3:c.39G>C , LRG_308t1:c.39G>C	NP_078951.2:p.Glu13Asp
XM_011545948.1:c.-981G>C	XP_011544250.1:n.-981G>C
XM_011545946.2:c.-814G>C	XP_011544248.1:n.-814G>C
XM_011545947.2:c.-814G>C	XP_011544249.1:n.-814G>C
XM_011545948.2:c.-981G>C	XP_011544250.1:n.-981G>C
XM_017023671.1:c.-814G>C	XP_016879160.1:n.-814G>C
XM_017023672.2:c.39G>C	XP_016879161.1:p.Glu13Asp
XM_017023673.2:c.39G>C	XP_016879162.1:p.Glu13Asp
NM_024675.4:c.39G>C MANE Select	NP_078951.2:p.Glu13Asp