Canonical Allele Identifier: CA494461449

Gene: PALB2

Linked Data

• dbSNP Id: rs2142415630
• MyVariant Identifiers: chr16:g.23646417A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635096A>G , CM000678.2:g.23635096A>G	GRCh38
NC_000016.9:g.23646417A>G , CM000678.1:g.23646417A>G	GRCh37
NC_000016.8:g.23553918A>G	NCBI36
NG_007406.1:g.11262T>C , LRG_308:g.11262T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1456T>C	ENSP00000460666.3:p.Leu486=
ENST00000565038.2:c.211+2754T>C	ENSP00000459882.2:n.211+2754T>C
ENST00000566069.6:c.1450T>C	ENSP00000459237.2:p.Leu484=
ENST00000697377.2:c.1456T>C	ENSP00000513286.2:p.Leu486=
ENST00000697379.2:c.1456T>C	ENSP00000513287.2:p.Leu486=
ENST00000561514.2:c.565T>C	ENSP00000460666.2:p.Leu189=
ENST00000697374.1:c.565T>C	ENSP00000513284.1:p.Leu189=
ENST00000697375.1:n.2797T>C
ENST00000697376.1:c.565T>C	ENSP00000513285.1:p.Leu189=
ENST00000697377.1:c.565T>C	ENSP00000513286.1:p.Leu189=
ENST00000697378.1:n.1970T>C
ENST00000697379.1:c.565T>C	ENSP00000513287.1:p.Leu189=
ENST00000697382.1:c.565T>C	ENSP00000513288.1:p.Leu189=
ENST00000697383.1:c.49-5821T>C	ENSP00000513289.1:n.49-5821T>C
ENST00000697384.1:n.1604T>C
ENST00000261584.9:c.1450T>C MANE Select	ENSP00000261584.4:p.Leu484=
ENST00000261584.8:c.1450T>C	ENSP00000261584.4:p.Leu484=
ENST00000565038.1:c.86+2754T>C
ENST00000568219.5:c.565T>C	ENSP00000454703.2:p.Leu189=
NM_024675.3:c.1450T>C , LRG_308t1:c.1450T>C	NP_078951.2:p.Leu484=
XM_011545946.1:c.1456T>C	XP_011544248.1:p.Leu486=
XM_011545947.1:c.1456T>C	XP_011544249.1:p.Leu486=
XM_011545948.1:c.565T>C	XP_011544250.1:p.Leu189=
XR_950851.1:n.2246T>C
XM_011545946.2:c.1456T>C	XP_011544248.1:p.Leu486=
XM_011545947.2:c.1456T>C	XP_011544249.1:p.Leu486=
XM_011545948.2:c.565T>C	XP_011544250.1:p.Leu189=
XM_017023671.1:c.1456T>C	XP_016879160.1:p.Leu486=
XM_017023672.2:c.1450T>C	XP_016879161.1:p.Leu484=
XM_017023673.2:c.1450T>C	XP_016879162.1:p.Leu484=
NM_024675.4:c.1450T>C MANE Select	NP_078951.2:p.Leu484=