Canonical Allele Identifier: CA395139328

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23649245T>A (hg19) ; chr16:g.23637924T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23637924T>A , CM000678.2:g.23637924T>A	GRCh38
NC_000016.9:g.23649245T>A , CM000678.1:g.23649245T>A	GRCh37
NC_000016.8:g.23556746T>A	NCBI36
NG_007406.1:g.8434A>T , LRG_308:g.8434A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.143A>T	ENSP00000460666.3:p.His48Leu
ENST00000565038.2:c.137A>T	ENSP00000459882.2:p.His46Leu
ENST00000566069.6:c.137A>T	ENSP00000459237.2:p.His46Leu
ENST00000697377.2:c.143A>T	ENSP00000513286.2:p.His48Leu
ENST00000697379.2:c.143A>T	ENSP00000513287.2:p.His48Leu
ENST00000561514.2:c.-749A>T	ENSP00000460666.2:n.-749A>T
ENST00000697374.1:c.-749A>T	ENSP00000513284.1:n.-749A>T
ENST00000697375.1:n.1484A>T
ENST00000697376.1:c.-749A>T	ENSP00000513285.1:n.-749A>T
ENST00000697377.1:c.-749A>T	ENSP00000513286.1:n.-749A>T
ENST00000697378.1:n.657A>T
ENST00000697379.1:c.-749A>T	ENSP00000513287.1:n.-749A>T
ENST00000697382.1:c.-749A>T	ENSP00000513288.1:n.-749A>T
ENST00000697383.1:c.48+3186A>T	ENSP00000513289.1:n.48+3186A>T
ENST00000697384.1:n.291A>T
ENST00000261584.9:c.137A>T MANE Select	ENSP00000261584.4:p.His46Leu
ENST00000261584.8:c.137A>T	ENSP00000261584.4:p.His46Leu
ENST00000561514.1:c.143A>T	ENSP00000460666.1:p.His48Leu
ENST00000565038.1:c.12A>T
ENST00000567003.1:n.415A>T
ENST00000568219.5:c.-749A>T	ENSP00000454703.2:n.-749A>T
NM_024675.3:c.137A>T , LRG_308t1:c.137A>T	NP_078951.2:p.His46Leu
XM_011545946.1:c.143A>T	XP_011544248.1:p.His48Leu
XM_011545947.1:c.143A>T	XP_011544249.1:p.His48Leu
XM_011545948.1:c.-749A>T	XP_011544250.1:n.-749A>T
XR_950851.1:n.933A>T
XM_011545946.2:c.143A>T	XP_011544248.1:p.His48Leu
XM_011545947.2:c.143A>T	XP_011544249.1:p.His48Leu
XM_011545948.2:c.-749A>T	XP_011544250.1:n.-749A>T
XM_017023671.1:c.143A>T	XP_016879160.1:p.His48Leu
XM_017023672.2:c.137A>T	XP_016879161.1:p.His46Leu
XM_017023673.2:c.137A>T	XP_016879162.1:p.His46Leu
NM_024675.4:c.137A>T MANE Select	NP_078951.2:p.His46Leu