Canonical Allele Identifier: CA494173694

Gene: PALB2

Linked Data

• MyVariant Identifiers: chr16:g.23614930A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603609A>G , CM000678.2:g.23603609A>G	GRCh38
NC_000016.9:g.23614930A>G , CM000678.1:g.23614930A>G	GRCh37
NC_000016.8:g.23522431A>G	NCBI36
NG_007406.1:g.42749T>C , LRG_308:g.42749T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3417T>C	ENSP00000460666.3:p.Ile1139=
ENST00000565038.2:c.*896T>C	ENSP00000459882.2:n.*896T>C
ENST00000566069.6:c.*46T>C	ENSP00000459237.2:n.*46T>C
ENST00000697377.2:c.3255T>C	ENSP00000513286.2:p.Ile1085=
ENST00000697379.2:c.3417T>C	ENSP00000513287.2:p.Ile1139=
ENST00000561514.2:c.2526T>C	ENSP00000460666.2:p.Ile842=
ENST00000697374.1:c.2526T>C	ENSP00000513284.1:p.Ile842=
ENST00000697375.1:n.4758T>C
ENST00000697376.1:c.*46T>C	ENSP00000513285.1:n.*46T>C
ENST00000697377.1:c.2364T>C	ENSP00000513286.1:p.Ile788=
ENST00000697378.1:n.3931T>C
ENST00000697379.1:c.2526T>C	ENSP00000513287.1:p.Ile842=
ENST00000697380.1:n.2615T>C
ENST00000697381.1:n.2106T>C
ENST00000697382.1:c.*188T>C	ENSP00000513288.1:n.*188T>C
ENST00000697383.1:c.945T>C	ENSP00000513289.1:p.Ile315=
ENST00000261584.9:c.3411T>C MANE Select	ENSP00000261584.4:p.Ile1137=
ENST00000261584.8:c.3411T>C	ENSP00000261584.4:p.Ile1137=
ENST00000566069.5:c.177T>C
ENST00000568219.5:c.2526T>C	ENSP00000454703.2:p.Ile842=
NM_024675.3:c.3411T>C , LRG_308t1:c.3411T>C	NP_078951.2:p.Ile1137=
XM_011545946.1:c.3417T>C	XP_011544248.1:p.Ile1139=
XM_011545947.1:c.*46T>C	XP_011544249.1:n.*46T>C
XM_011545948.1:c.2526T>C	XP_011544250.1:p.Ile842=
XR_950851.1:n.4119T>C
XM_011545946.2:c.3417T>C	XP_011544248.1:p.Ile1139=
XM_011545947.2:c.*46T>C	XP_011544249.1:n.*46T>C
XM_011545948.2:c.2526T>C	XP_011544250.1:p.Ile842=
XM_017023671.1:c.3180T>C	XP_016879160.1:p.Ile1060=
XM_017023672.2:c.3174T>C	XP_016879161.1:p.Ile1058=
XM_017023673.2:c.*46T>C	XP_016879162.1:n.*46T>C
NM_024675.4:c.3411T>C MANE Select	NP_078951.2:p.Ile1137=