Canonical Allele Identifier: CA494177450

Gene: PALB2

Linked Data

• dbSNP Id: rs2142298617
• MyVariant Identifiers: chr16:g.23625328T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23614007T>C , CM000678.2:g.23614007T>C	GRCh38
NC_000016.9:g.23625328T>C , CM000678.1:g.23625328T>C	GRCh37
NC_000016.8:g.23532829T>C	NCBI36
NG_007406.1:g.32351A>G , LRG_308:g.32351A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3204A>G	ENSP00000460666.3:p.Glu1068=
ENST00000565038.2:c.*679A>G	ENSP00000459882.2:n.*679A>G
ENST00000566069.6:c.3198A>G	ENSP00000459237.2:p.Glu1066=
ENST00000697377.2:c.3042A>G	ENSP00000513286.2:p.Glu1014=
ENST00000697379.2:c.3204A>G	ENSP00000513287.2:p.Glu1068=
ENST00000561514.2:c.2313A>G	ENSP00000460666.2:p.Glu771=
ENST00000697374.1:c.2313A>G	ENSP00000513284.1:p.Glu771=
ENST00000697375.1:n.4545A>G
ENST00000697376.1:c.2313A>G	ENSP00000513285.1:p.Glu771=
ENST00000697377.1:c.2151A>G	ENSP00000513286.1:p.Glu717=
ENST00000697378.1:n.3718A>G
ENST00000697379.1:c.2313A>G	ENSP00000513287.1:p.Glu771=
ENST00000697380.1:n.2406-5995A>G
ENST00000697381.1:n.1893A>G
ENST00000697382.1:c.2229-5995A>G	ENSP00000513288.1:n.2229-5995A>G
ENST00000697383.1:c.732A>G	ENSP00000513289.1:p.Glu244=
ENST00000261584.9:c.3198A>G MANE Select	ENSP00000261584.4:p.Glu1066=
ENST00000261584.8:c.3198A>G	ENSP00000261584.4:p.Glu1066=
ENST00000566069.5:c.113A>G
ENST00000568219.5:c.2313A>G	ENSP00000454703.2:p.Glu771=
NM_024675.3:c.3198A>G , LRG_308t1:c.3198A>G	NP_078951.2:p.Glu1066=
XM_011545946.1:c.3204A>G	XP_011544248.1:p.Glu1068=
XM_011545947.1:c.3204A>G	XP_011544249.1:p.Glu1068=
XM_011545948.1:c.2313A>G	XP_011544250.1:p.Glu771=
XR_950851.1:n.3910-5995A>G
XM_011545946.2:c.3204A>G	XP_011544248.1:p.Glu1068=
XM_011545947.2:c.3204A>G	XP_011544249.1:p.Glu1068=
XM_011545948.2:c.2313A>G	XP_011544250.1:p.Glu771=
XM_017023671.1:c.3119+7355A>G	XP_016879160.1:n.3119+7355A>G
XM_017023672.2:c.3113+7355A>G	XP_016879161.1:n.3113+7355A>G
XM_017023673.2:c.3198A>G	XP_016879162.1:p.Glu1066=
NM_024675.4:c.3198A>G MANE Select	NP_078951.2:p.Glu1066=