Canonical Allele Identifier: CA494461458

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2700140
• ClinVar RCV Id: RCV003501072
• MyVariant Identifiers: chr16:g.23646427T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635106T>C , CM000678.2:g.23635106T>C	GRCh38
NC_000016.9:g.23646427T>C , CM000678.1:g.23646427T>C	GRCh37
NC_000016.8:g.23553928T>C	NCBI36
NG_007406.1:g.11252A>G , LRG_308:g.11252A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1446A>G	ENSP00000460666.3:p.Lys482=
ENST00000565038.2:c.211+2744A>G	ENSP00000459882.2:n.211+2744A>G
ENST00000566069.6:c.1440A>G	ENSP00000459237.2:p.Lys480=
ENST00000697377.2:c.1446A>G	ENSP00000513286.2:p.Lys482=
ENST00000697379.2:c.1446A>G	ENSP00000513287.2:p.Lys482=
ENST00000561514.2:c.555A>G	ENSP00000460666.2:p.Lys185=
ENST00000697374.1:c.555A>G	ENSP00000513284.1:p.Lys185=
ENST00000697375.1:n.2787A>G
ENST00000697376.1:c.555A>G	ENSP00000513285.1:p.Lys185=
ENST00000697377.1:c.555A>G	ENSP00000513286.1:p.Lys185=
ENST00000697378.1:n.1960A>G
ENST00000697379.1:c.555A>G	ENSP00000513287.1:p.Lys185=
ENST00000697382.1:c.555A>G	ENSP00000513288.1:p.Lys185=
ENST00000697383.1:c.49-5831A>G	ENSP00000513289.1:n.49-5831A>G
ENST00000697384.1:n.1594A>G
ENST00000261584.9:c.1440A>G MANE Select	ENSP00000261584.4:p.Lys480=
ENST00000261584.8:c.1440A>G	ENSP00000261584.4:p.Lys480=
ENST00000565038.1:c.86+2744A>G
ENST00000568219.5:c.555A>G	ENSP00000454703.2:p.Lys185=
NM_024675.3:c.1440A>G , LRG_308t1:c.1440A>G	NP_078951.2:p.Lys480=
XM_011545946.1:c.1446A>G	XP_011544248.1:p.Lys482=
XM_011545947.1:c.1446A>G	XP_011544249.1:p.Lys482=
XM_011545948.1:c.555A>G	XP_011544250.1:p.Lys185=
XR_950851.1:n.2236A>G
XM_011545946.2:c.1446A>G	XP_011544248.1:p.Lys482=
XM_011545947.2:c.1446A>G	XP_011544249.1:p.Lys482=
XM_011545948.2:c.555A>G	XP_011544250.1:p.Lys185=
XM_017023671.1:c.1446A>G	XP_016879160.1:p.Lys482=
XM_017023672.2:c.1440A>G	XP_016879161.1:p.Lys480=
XM_017023673.2:c.1440A>G	XP_016879162.1:p.Lys480=
NM_024675.4:c.1440A>G MANE Select	NP_078951.2:p.Lys480=