Canonical Allele Identifier: CA494461246

Gene: PALB2

Linked Data

• dbSNP Id: rs2142388331
• MyVariant Identifiers: chr16:g.23641648G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630327G>T , CM000678.2:g.23630327G>T	GRCh38
NC_000016.9:g.23641648G>T , CM000678.1:g.23641648G>T	GRCh37
NC_000016.8:g.23549149G>T	NCBI36
NG_007406.1:g.16031C>A , LRG_308:g.16031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1833C>A	ENSP00000460666.3:p.Ile611=
ENST00000565038.2:c.212-1052C>A	ENSP00000459882.2:n.212-1052C>A
ENST00000566069.6:c.1827C>A	ENSP00000459237.2:p.Ile609=
ENST00000697377.2:c.1833C>A	ENSP00000513286.2:p.Ile611=
ENST00000697379.2:c.1833C>A	ENSP00000513287.2:p.Ile611=
ENST00000561514.2:c.942C>A	ENSP00000460666.2:p.Ile314=
ENST00000697374.1:c.942C>A	ENSP00000513284.1:p.Ile314=
ENST00000697375.1:n.3174C>A
ENST00000697376.1:c.942C>A	ENSP00000513285.1:p.Ile314=
ENST00000697377.1:c.942C>A	ENSP00000513286.1:p.Ile314=
ENST00000697378.1:n.2347C>A
ENST00000697379.1:c.942C>A	ENSP00000513287.1:p.Ile314=
ENST00000697380.1:n.755C>A
ENST00000697381.1:n.522C>A
ENST00000697382.1:c.942C>A	ENSP00000513288.1:p.Ile314=
ENST00000697383.1:c.49-1052C>A	ENSP00000513289.1:n.49-1052C>A
ENST00000697384.1:n.1981C>A
ENST00000261584.9:c.1827C>A MANE Select	ENSP00000261584.4:p.Ile609=
ENST00000261584.8:c.1827C>A	ENSP00000261584.4:p.Ile609=
ENST00000565038.1:c.87-1052C>A
ENST00000568219.5:c.942C>A	ENSP00000454703.2:p.Ile314=
NM_024675.3:c.1827C>A , LRG_308t1:c.1827C>A	NP_078951.2:p.Ile609=
XM_011545946.1:c.1833C>A	XP_011544248.1:p.Ile611=
XM_011545947.1:c.1833C>A	XP_011544249.1:p.Ile611=
XM_011545948.1:c.942C>A	XP_011544250.1:p.Ile314=
XR_950851.1:n.2623C>A
XM_011545946.2:c.1833C>A	XP_011544248.1:p.Ile611=
XM_011545947.2:c.1833C>A	XP_011544249.1:p.Ile611=
XM_011545948.2:c.942C>A	XP_011544250.1:p.Ile314=
XM_017023671.1:c.1833C>A	XP_016879160.1:p.Ile611=
XM_017023672.2:c.1827C>A	XP_016879161.1:p.Ile609=
XM_017023673.2:c.1827C>A	XP_016879162.1:p.Ile609=
NM_024675.4:c.1827C>A MANE Select	NP_078951.2:p.Ile609=