Canonical Allele Identifier: CA494180441

Gene: PALB2

Linked Data

• COSMIC: COSM3817569
• MyVariant Identifiers: chr16:g.23634364C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23623043C>T , CM000678.2:g.23623043C>T	GRCh38
NC_000016.9:g.23634364C>T , CM000678.1:g.23634364C>T	GRCh37
NC_000016.8:g.23541865C>T	NCBI36
NG_007406.1:g.23315G>A , LRG_308:g.23315G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2928G>A	ENSP00000460666.3:p.Lys976=
ENST00000565038.2:c.*403G>A	ENSP00000459882.2:n.*403G>A
ENST00000566069.6:c.2922G>A	ENSP00000459237.2:p.Lys974=
ENST00000697377.2:c.2766G>A	ENSP00000513286.2:p.Lys922=
ENST00000697379.2:c.2928G>A	ENSP00000513287.2:p.Lys976=
ENST00000561514.2:c.2037G>A	ENSP00000460666.2:p.Lys679=
ENST00000697374.1:c.2037G>A	ENSP00000513284.1:p.Lys679=
ENST00000697375.1:n.4269G>A
ENST00000697376.1:c.2037G>A	ENSP00000513285.1:p.Lys679=
ENST00000697377.1:c.1875G>A	ENSP00000513286.1:p.Lys625=
ENST00000697378.1:n.3442G>A
ENST00000697379.1:c.2037G>A	ENSP00000513287.1:p.Lys679=
ENST00000697380.1:n.2214G>A
ENST00000697381.1:n.1617G>A
ENST00000697382.1:c.2037G>A	ENSP00000513288.1:p.Lys679=
ENST00000697383.1:c.456G>A	ENSP00000513289.1:p.Lys152=
ENST00000261584.9:c.2922G>A MANE Select	ENSP00000261584.4:p.Lys974=
ENST00000261584.8:c.2922G>A	ENSP00000261584.4:p.Lys974=
ENST00000568219.5:c.2037G>A	ENSP00000454703.2:p.Lys679=
NM_024675.3:c.2922G>A , LRG_308t1:c.2922G>A	NP_078951.2:p.Lys974=
XM_011545946.1:c.2928G>A	XP_011544248.1:p.Lys976=
XM_011545947.1:c.2928G>A	XP_011544249.1:p.Lys976=
XM_011545948.1:c.2037G>A	XP_011544250.1:p.Lys679=
XR_950851.1:n.3718G>A
XM_011545946.2:c.2928G>A	XP_011544248.1:p.Lys976=
XM_011545947.2:c.2928G>A	XP_011544249.1:p.Lys976=
XM_011545948.2:c.2037G>A	XP_011544250.1:p.Lys679=
XM_017023671.1:c.2928G>A	XP_016879160.1:p.Lys976=
XM_017023672.2:c.2922G>A	XP_016879161.1:p.Lys974=
XM_017023673.2:c.2922G>A	XP_016879162.1:p.Lys974=
NM_024675.4:c.2922G>A MANE Select	NP_078951.2:p.Lys974=