Canonical Allele Identifier: CA395138251

Gene: PALB2

Linked Data

• dbSNP Id: rs1240104368
• gnomAD v2: 16-23614943-G-C
• gnomAD v4: 16-23603622-G-C
• MyVariant Identifiers: chr16:g.23614943G>C (hg19) ; chr16:g.23603622G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603622G>C , CM000678.2:g.23603622G>C	GRCh38
NC_000016.9:g.23614943G>C , CM000678.1:g.23614943G>C	GRCh37
NC_000016.8:g.23522444G>C	NCBI36
NG_007406.1:g.42736C>G , LRG_308:g.42736C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3404C>G	ENSP00000460666.3:p.Thr1135Ser
ENST00000565038.2:c.*883C>G	ENSP00000459882.2:n.*883C>G
ENST00000566069.6:c.*33C>G	ENSP00000459237.2:n.*33C>G
ENST00000697377.2:c.3242C>G	ENSP00000513286.2:p.Thr1081Ser
ENST00000697379.2:c.3404C>G	ENSP00000513287.2:p.Thr1135Ser
ENST00000561514.2:c.2513C>G	ENSP00000460666.2:p.Thr838Ser
ENST00000697374.1:c.2513C>G	ENSP00000513284.1:p.Thr838Ser
ENST00000697375.1:n.4745C>G
ENST00000697376.1:c.*33C>G	ENSP00000513285.1:n.*33C>G
ENST00000697377.1:c.2351C>G	ENSP00000513286.1:p.Thr784Ser
ENST00000697378.1:n.3918C>G
ENST00000697379.1:c.2513C>G	ENSP00000513287.1:p.Thr838Ser
ENST00000697380.1:n.2602C>G
ENST00000697381.1:n.2093C>G
ENST00000697382.1:c.*175C>G	ENSP00000513288.1:n.*175C>G
ENST00000697383.1:c.932C>G	ENSP00000513289.1:p.Thr311Ser
ENST00000261584.9:c.3398C>G MANE Select	ENSP00000261584.4:p.Thr1133Ser
ENST00000261584.8:c.3398C>G	ENSP00000261584.4:p.Thr1133Ser
ENST00000566069.5:c.164C>G
ENST00000568219.5:c.2513C>G	ENSP00000454703.2:p.Thr838Ser
NM_024675.3:c.3398C>G , LRG_308t1:c.3398C>G	NP_078951.2:p.Thr1133Ser
XM_011545946.1:c.3404C>G	XP_011544248.1:p.Thr1135Ser
XM_011545947.1:c.*33C>G	XP_011544249.1:n.*33C>G
XM_011545948.1:c.2513C>G	XP_011544250.1:p.Thr838Ser
XR_950851.1:n.4106C>G
XM_011545946.2:c.3404C>G	XP_011544248.1:p.Thr1135Ser
XM_011545947.2:c.*33C>G	XP_011544249.1:n.*33C>G
XM_011545948.2:c.2513C>G	XP_011544250.1:p.Thr838Ser
XM_017023671.1:c.3167C>G	XP_016879160.1:p.Thr1056Ser
XM_017023672.2:c.3161C>G	XP_016879161.1:p.Thr1054Ser
XM_017023673.2:c.*33C>G	XP_016879162.1:n.*33C>G
NM_024675.4:c.3398C>G MANE Select	NP_078951.2:p.Thr1133Ser