Canonical Allele Identifier: CA494173486

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1732627
• ClinVar RCV Id: RCV002339751
• MyVariant Identifiers: chr16:g.23614786A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603465A>G , CM000678.2:g.23603465A>G	GRCh38
NC_000016.9:g.23614786A>G , CM000678.1:g.23614786A>G	GRCh37
NC_000016.8:g.23522287A>G	NCBI36
NG_007406.1:g.42893T>C , LRG_308:g.42893T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3561T>C	ENSP00000460666.3:p.Tyr1187=
ENST00000565038.2:c.*1040T>C	ENSP00000459882.2:n.*1040T>C
ENST00000566069.6:c.*190T>C	ENSP00000459237.2:n.*190T>C
ENST00000697377.2:c.3399T>C	ENSP00000513286.2:p.Tyr1133=
ENST00000697379.2:c.3561T>C	ENSP00000513287.2:p.Tyr1187=
ENST00000561514.2:c.2670T>C	ENSP00000460666.2:p.Tyr890=
ENST00000697374.1:c.2670T>C	ENSP00000513284.1:p.Tyr890=
ENST00000697375.1:n.4902T>C
ENST00000697376.1:c.*190T>C	ENSP00000513285.1:n.*190T>C
ENST00000697377.1:c.2508T>C	ENSP00000513286.1:p.Tyr836=
ENST00000697378.1:n.4075T>C
ENST00000697379.1:c.2670T>C	ENSP00000513287.1:p.Tyr890=
ENST00000697380.1:n.2759T>C
ENST00000697381.1:n.2250T>C
ENST00000697382.1:c.*332T>C	ENSP00000513288.1:n.*332T>C
ENST00000697383.1:c.1089T>C	ENSP00000513289.1:p.Tyr363=
ENST00000261584.9:c.3555T>C MANE Select	ENSP00000261584.4:p.Tyr1185=
ENST00000261584.8:c.3555T>C	ENSP00000261584.4:p.Tyr1185=
ENST00000566069.5:c.321T>C
ENST00000568219.5:c.2670T>C	ENSP00000454703.2:p.Tyr890=
NM_024675.3:c.3555T>C , LRG_308t1:c.3555T>C	NP_078951.2:p.Tyr1185=
XM_011545946.1:c.3561T>C	XP_011544248.1:p.Tyr1187=
XM_011545947.1:c.*190T>C	XP_011544249.1:n.*190T>C
XM_011545948.1:c.2670T>C	XP_011544250.1:p.Tyr890=
XR_950851.1:n.4263T>C
XM_011545946.2:c.3561T>C	XP_011544248.1:p.Tyr1187=
XM_011545947.2:c.*190T>C	XP_011544249.1:n.*190T>C
XM_011545948.2:c.2670T>C	XP_011544250.1:p.Tyr890=
XM_017023671.1:c.3324T>C	XP_016879160.1:p.Tyr1108=
XM_017023672.2:c.3318T>C	XP_016879161.1:p.Tyr1106=
XM_017023673.2:c.*190T>C	XP_016879162.1:n.*190T>C
NM_024675.4:c.3555T>C MANE Select	NP_078951.2:p.Tyr1185=