Canonical Allele Identifier: CA395144977

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1390313
• ClinVar RCV Id: RCV001890936
• dbSNP Id: rs370243279
• MyVariant Identifiers: chr16:g.23635364C>G (hg19) ; chr16:g.23624043C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23624043C>G , CM000678.2:g.23624043C>G	GRCh38
NC_000016.9:g.23635364C>G , CM000678.1:g.23635364C>G	GRCh37
NC_000016.8:g.23542865C>G	NCBI36
NG_007406.1:g.22315G>C , LRG_308:g.22315G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.2806G>C	ENSP00000460666.3:p.Val936Leu
ENST00000565038.2:c.*281G>C	ENSP00000459882.2:n.*281G>C
ENST00000566069.6:c.2800G>C	ENSP00000459237.2:p.Val934Leu
ENST00000697377.2:c.2644G>C	ENSP00000513286.2:p.Val882Leu
ENST00000697379.2:c.2806G>C	ENSP00000513287.2:p.Val936Leu
ENST00000561514.2:c.1915G>C	ENSP00000460666.2:p.Val639Leu
ENST00000697374.1:c.1915G>C	ENSP00000513284.1:p.Val639Leu
ENST00000697375.1:n.4147G>C
ENST00000697376.1:c.1915G>C	ENSP00000513285.1:p.Val639Leu
ENST00000697377.1:c.1753G>C	ENSP00000513286.1:p.Val585Leu
ENST00000697378.1:n.3320G>C
ENST00000697379.1:c.1915G>C	ENSP00000513287.1:p.Val639Leu
ENST00000697380.1:n.2092G>C
ENST00000697381.1:n.1495G>C
ENST00000697382.1:c.1915G>C	ENSP00000513288.1:p.Val639Leu
ENST00000697383.1:c.334G>C	ENSP00000513289.1:p.Val112Leu
ENST00000261584.9:c.2800G>C MANE Select	ENSP00000261584.4:p.Val934Leu
ENST00000261584.8:c.2800G>C	ENSP00000261584.4:p.Val934Leu
ENST00000568219.5:c.1915G>C	ENSP00000454703.2:p.Val639Leu
NM_024675.3:c.2800G>C , LRG_308t1:c.2800G>C	NP_078951.2:p.Val934Leu
XM_011545946.1:c.2806G>C	XP_011544248.1:p.Val936Leu
XM_011545947.1:c.2806G>C	XP_011544249.1:p.Val936Leu
XM_011545948.1:c.1915G>C	XP_011544250.1:p.Val639Leu
XR_950851.1:n.3596G>C
XM_011545946.2:c.2806G>C	XP_011544248.1:p.Val936Leu
XM_011545947.2:c.2806G>C	XP_011544249.1:p.Val936Leu
XM_011545948.2:c.1915G>C	XP_011544250.1:p.Val639Leu
XM_017023671.1:c.2806G>C	XP_016879160.1:p.Val936Leu
XM_017023672.2:c.2800G>C	XP_016879161.1:p.Val934Leu
XM_017023673.2:c.2800G>C	XP_016879162.1:p.Val934Leu
NM_024675.4:c.2800G>C MANE Select	NP_078951.2:p.Val934Leu