Canonical Allele Identifier: CA395139492

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23619233A>T (hg19) ; chr16:g.23607912A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607912A>T , CM000678.2:g.23607912A>T	GRCh38
NC_000016.9:g.23619233A>T , CM000678.1:g.23619233A>T	GRCh37
NC_000016.8:g.23526734A>T	NCBI36
NG_007406.1:g.38446T>A , LRG_308:g.38446T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3308T>A	ENSP00000460666.3:p.Leu1103His
ENST00000565038.2:c.*783T>A	ENSP00000459882.2:n.*783T>A
ENST00000566069.6:c.3202-4243T>A	ENSP00000459237.2:n.3202-4243T>A
ENST00000697377.2:c.3146T>A	ENSP00000513286.2:p.Leu1049His
ENST00000697379.2:c.3308T>A	ENSP00000513287.2:p.Leu1103His
ENST00000561514.2:c.2417T>A	ENSP00000460666.2:p.Leu806His
ENST00000697374.1:c.2417T>A	ENSP00000513284.1:p.Leu806His
ENST00000697375.1:n.4649T>A
ENST00000697376.1:c.2317-4243T>A	ENSP00000513285.1:n.2317-4243T>A
ENST00000697377.1:c.2255T>A	ENSP00000513286.1:p.Leu752His
ENST00000697378.1:n.3822T>A
ENST00000697379.1:c.2417T>A	ENSP00000513287.1:p.Leu806His
ENST00000697380.1:n.2506T>A
ENST00000697381.1:n.1997T>A
ENST00000697382.1:c.*79T>A	ENSP00000513288.1:n.*79T>A
ENST00000697383.1:c.836T>A	ENSP00000513289.1:p.Leu279His
ENST00000261584.9:c.3302T>A MANE Select	ENSP00000261584.4:p.Leu1101His
ENST00000261584.8:c.3302T>A	ENSP00000261584.4:p.Leu1101His
ENST00000566069.5:c.117-4243T>A
ENST00000568219.5:c.2417T>A	ENSP00000454703.2:p.Leu806His
NM_024675.3:c.3302T>A , LRG_308t1:c.3302T>A	NP_078951.2:p.Leu1101His
XM_011545946.1:c.3308T>A	XP_011544248.1:p.Leu1103His
XM_011545947.1:c.3208-4243T>A	XP_011544249.1:n.3208-4243T>A
XM_011545948.1:c.2417T>A	XP_011544250.1:p.Leu806His
XR_950851.1:n.4010T>A
XM_011545946.2:c.3308T>A	XP_011544248.1:p.Leu1103His
XM_011545947.2:c.3208-4243T>A	XP_011544249.1:n.3208-4243T>A
XM_011545948.2:c.2417T>A	XP_011544250.1:p.Leu806His
XM_017023671.1:c.3120-4243T>A	XP_016879160.1:n.3120-4243T>A
XM_017023672.2:c.3114-4243T>A	XP_016879161.1:n.3114-4243T>A
XM_017023673.2:c.3202-4243T>A	XP_016879162.1:n.3202-4243T>A
NM_024675.4:c.3302T>A MANE Select	NP_078951.2:p.Leu1101His