Canonical Allele Identifier: CA395138263

Gene: PALB2

Linked Data

• dbSNP Id: rs2142254801
• MyVariant Identifiers: chr16:g.23614948G>C (hg19) ; chr16:g.23603627G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603627G>C , CM000678.2:g.23603627G>C	GRCh38
NC_000016.9:g.23614948G>C , CM000678.1:g.23614948G>C	GRCh37
NC_000016.8:g.23522449G>C	NCBI36
NG_007406.1:g.42731C>G , LRG_308:g.42731C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3399C>G	ENSP00000460666.3:p.Ile1133Met
ENST00000565038.2:c.*878C>G	ENSP00000459882.2:n.*878C>G
ENST00000566069.6:c.*28C>G	ENSP00000459237.2:n.*28C>G
ENST00000697377.2:c.3237C>G	ENSP00000513286.2:p.Ile1079Met
ENST00000697379.2:c.3399C>G	ENSP00000513287.2:p.Ile1133Met
ENST00000561514.2:c.2508C>G	ENSP00000460666.2:p.Ile836Met
ENST00000697374.1:c.2508C>G	ENSP00000513284.1:p.Ile836Met
ENST00000697375.1:n.4740C>G
ENST00000697376.1:c.*28C>G	ENSP00000513285.1:n.*28C>G
ENST00000697377.1:c.2346C>G	ENSP00000513286.1:p.Ile782Met
ENST00000697378.1:n.3913C>G
ENST00000697379.1:c.2508C>G	ENSP00000513287.1:p.Ile836Met
ENST00000697380.1:n.2597C>G
ENST00000697381.1:n.2088C>G
ENST00000697382.1:c.*170C>G	ENSP00000513288.1:n.*170C>G
ENST00000697383.1:c.927C>G	ENSP00000513289.1:p.Ile309Met
ENST00000261584.9:c.3393C>G MANE Select	ENSP00000261584.4:p.Ile1131Met
ENST00000261584.8:c.3393C>G	ENSP00000261584.4:p.Ile1131Met
ENST00000566069.5:c.159C>G
ENST00000568219.5:c.2508C>G	ENSP00000454703.2:p.Ile836Met
NM_024675.3:c.3393C>G , LRG_308t1:c.3393C>G	NP_078951.2:p.Ile1131Met
XM_011545946.1:c.3399C>G	XP_011544248.1:p.Ile1133Met
XM_011545947.1:c.*28C>G	XP_011544249.1:n.*28C>G
XM_011545948.1:c.2508C>G	XP_011544250.1:p.Ile836Met
XR_950851.1:n.4101C>G
XM_011545946.2:c.3399C>G	XP_011544248.1:p.Ile1133Met
XM_011545947.2:c.*28C>G	XP_011544249.1:n.*28C>G
XM_011545948.2:c.2508C>G	XP_011544250.1:p.Ile836Met
XM_017023671.1:c.3162C>G	XP_016879160.1:p.Ile1054Met
XM_017023672.2:c.3156C>G	XP_016879161.1:p.Ile1052Met
XM_017023673.2:c.*28C>G	XP_016879162.1:n.*28C>G
NM_024675.4:c.3393C>G MANE Select	NP_078951.2:p.Ile1131Met