Canonical Allele Identifier: CA395143927

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1798337
• ClinVar RCV Id: RCV002442151
• MyVariant Identifiers: chr16:g.23634309T>C (hg19) ; chr16:g.23622988T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23622988T>C , CM000678.2:g.23622988T>C	GRCh38
NC_000016.9:g.23634309T>C , CM000678.1:g.23634309T>C	GRCh37
NC_000016.8:g.23541810T>C	NCBI36
NG_007406.1:g.23370A>G , LRG_308:g.23370A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2983A>G	ENSP00000460666.3:p.Thr995Ala
ENST00000565038.2:c.*458A>G	ENSP00000459882.2:n.*458A>G
ENST00000566069.6:c.2977A>G	ENSP00000459237.2:p.Thr993Ala
ENST00000697377.2:c.2821A>G	ENSP00000513286.2:p.Thr941Ala
ENST00000697379.2:c.2983A>G	ENSP00000513287.2:p.Thr995Ala
ENST00000561514.2:c.2092A>G	ENSP00000460666.2:p.Thr698Ala
ENST00000697374.1:c.2092A>G	ENSP00000513284.1:p.Thr698Ala
ENST00000697375.1:n.4324A>G
ENST00000697376.1:c.2092A>G	ENSP00000513285.1:p.Thr698Ala
ENST00000697377.1:c.1930A>G	ENSP00000513286.1:p.Thr644Ala
ENST00000697378.1:n.3497A>G
ENST00000697379.1:c.2092A>G	ENSP00000513287.1:p.Thr698Ala
ENST00000697380.1:n.2269A>G
ENST00000697381.1:n.1672A>G
ENST00000697382.1:c.2092A>G	ENSP00000513288.1:p.Thr698Ala
ENST00000697383.1:c.511A>G	ENSP00000513289.1:p.Thr171Ala
ENST00000261584.9:c.2977A>G MANE Select	ENSP00000261584.4:p.Thr993Ala
ENST00000261584.8:c.2977A>G	ENSP00000261584.4:p.Thr993Ala
ENST00000568219.5:c.2092A>G	ENSP00000454703.2:p.Thr698Ala
NM_024675.3:c.2977A>G , LRG_308t1:c.2977A>G	NP_078951.2:p.Thr993Ala
XM_011545946.1:c.2983A>G	XP_011544248.1:p.Thr995Ala
XM_011545947.1:c.2983A>G	XP_011544249.1:p.Thr995Ala
XM_011545948.1:c.2092A>G	XP_011544250.1:p.Thr698Ala
XR_950851.1:n.3773A>G
XM_011545946.2:c.2983A>G	XP_011544248.1:p.Thr995Ala
XM_011545947.2:c.2983A>G	XP_011544249.1:p.Thr995Ala
XM_011545948.2:c.2092A>G	XP_011544250.1:p.Thr698Ala
XM_017023671.1:c.2983A>G	XP_016879160.1:p.Thr995Ala
XM_017023672.2:c.2977A>G	XP_016879161.1:p.Thr993Ala
XM_017023673.2:c.2977A>G	XP_016879162.1:p.Thr993Ala
NM_024675.4:c.2977A>G MANE Select	NP_078951.2:p.Thr993Ala