Canonical Allele Identifier: CA494173556

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614843A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603522A>C , CM000678.2:g.23603522A>C	GRCh38
NC_000016.9:g.23614843A>C , CM000678.1:g.23614843A>C	GRCh37
NC_000016.8:g.23522344A>C	NCBI36
NG_007406.1:g.42836T>G , LRG_308:g.42836T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3504T>G	ENSP00000460666.3:p.Gly1168=
ENST00000565038.2:c.*983T>G	ENSP00000459882.2:n.*983T>G
ENST00000566069.6:c.*133T>G	ENSP00000459237.2:n.*133T>G
ENST00000697377.2:c.3342T>G	ENSP00000513286.2:p.Gly1114=
ENST00000697379.2:c.3504T>G	ENSP00000513287.2:p.Gly1168=
ENST00000561514.2:c.2613T>G	ENSP00000460666.2:p.Gly871=
ENST00000697374.1:c.2613T>G	ENSP00000513284.1:p.Gly871=
ENST00000697375.1:n.4845T>G
ENST00000697376.1:c.*133T>G	ENSP00000513285.1:n.*133T>G
ENST00000697377.1:c.2451T>G	ENSP00000513286.1:p.Gly817=
ENST00000697378.1:n.4018T>G
ENST00000697379.1:c.2613T>G	ENSP00000513287.1:p.Gly871=
ENST00000697380.1:n.2702T>G
ENST00000697381.1:n.2193T>G
ENST00000697382.1:c.*275T>G	ENSP00000513288.1:n.*275T>G
ENST00000697383.1:c.1032T>G	ENSP00000513289.1:p.Gly344=
ENST00000261584.9:c.3498T>G MANE Select	ENSP00000261584.4:p.Gly1166=
ENST00000261584.8:c.3498T>G	ENSP00000261584.4:p.Gly1166=
ENST00000566069.5:c.264T>G
ENST00000568219.5:c.2613T>G	ENSP00000454703.2:p.Gly871=
NM_024675.3:c.3498T>G , LRG_308t1:c.3498T>G	NP_078951.2:p.Gly1166=
XM_011545946.1:c.3504T>G	XP_011544248.1:p.Gly1168=
XM_011545947.1:c.*133T>G	XP_011544249.1:n.*133T>G
XM_011545948.1:c.2613T>G	XP_011544250.1:p.Gly871=
XR_950851.1:n.4206T>G
XM_011545946.2:c.3504T>G	XP_011544248.1:p.Gly1168=
XM_011545947.2:c.*133T>G	XP_011544249.1:n.*133T>G
XM_011545948.2:c.2613T>G	XP_011544250.1:p.Gly871=
XM_017023671.1:c.3267T>G	XP_016879160.1:p.Gly1089=
XM_017023672.2:c.3261T>G	XP_016879161.1:p.Gly1087=
XM_017023673.2:c.*133T>G	XP_016879162.1:n.*133T>G
NM_024675.4:c.3498T>G MANE Select	NP_078951.2:p.Gly1166=