Canonical Allele Identifier: CA395138415

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614988A>C (hg19) ; chr16:g.23603667A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603667A>C , CM000678.2:g.23603667A>C	GRCh38
NC_000016.9:g.23614988A>C , CM000678.1:g.23614988A>C	GRCh37
NC_000016.8:g.23522489A>C	NCBI36
NG_007406.1:g.42691T>G , LRG_308:g.42691T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3359T>G	ENSP00000460666.3:p.Phe1120Cys
ENST00000565038.2:c.*838T>G	ENSP00000459882.2:n.*838T>G
ENST00000566069.6:c.3204T>G	ENSP00000459237.2:p.Val1068=
ENST00000697377.2:c.3197T>G	ENSP00000513286.2:p.Phe1066Cys
ENST00000697379.2:c.3359T>G	ENSP00000513287.2:p.Phe1120Cys
ENST00000561514.2:c.2468T>G	ENSP00000460666.2:p.Phe823Cys
ENST00000697374.1:c.2468T>G	ENSP00000513284.1:p.Phe823Cys
ENST00000697375.1:n.4700T>G
ENST00000697376.1:c.2319T>G	ENSP00000513285.1:p.Val773=
ENST00000697377.1:c.2306T>G	ENSP00000513286.1:p.Phe769Cys
ENST00000697378.1:n.3873T>G
ENST00000697379.1:c.2468T>G	ENSP00000513287.1:p.Phe823Cys
ENST00000697380.1:n.2557T>G
ENST00000697381.1:n.2048T>G
ENST00000697382.1:c.*130T>G	ENSP00000513288.1:n.*130T>G
ENST00000697383.1:c.887T>G	ENSP00000513289.1:p.Phe296Cys
ENST00000261584.9:c.3353T>G MANE Select	ENSP00000261584.4:p.Phe1118Cys
ENST00000261584.8:c.3353T>G	ENSP00000261584.4:p.Phe1118Cys
ENST00000566069.5:c.119T>G
ENST00000568219.5:c.2468T>G	ENSP00000454703.2:p.Phe823Cys
NM_024675.3:c.3353T>G , LRG_308t1:c.3353T>G	NP_078951.2:p.Phe1118Cys
XM_011545946.1:c.3359T>G	XP_011544248.1:p.Phe1120Cys
XM_011545947.1:c.3210T>G	XP_011544249.1:p.Val1070=
XM_011545948.1:c.2468T>G	XP_011544250.1:p.Phe823Cys
XR_950851.1:n.4061T>G
XM_011545946.2:c.3359T>G	XP_011544248.1:p.Phe1120Cys
XM_011545947.2:c.3210T>G	XP_011544249.1:p.Val1070=
XM_011545948.2:c.2468T>G	XP_011544250.1:p.Phe823Cys
XM_017023671.1:c.3122T>G	XP_016879160.1:p.Phe1041Cys
XM_017023672.2:c.3116T>G	XP_016879161.1:p.Phe1039Cys
XM_017023673.2:c.3204T>G	XP_016879162.1:p.Val1068=
NM_024675.4:c.3353T>G MANE Select	NP_078951.2:p.Phe1118Cys