Canonical Allele Identifier: CA395139388

Gene: PALB2

Linked Data

• dbSNP Id: rs2142271604
• MyVariant Identifiers: chr16:g.23619213A>C (hg19) ; chr16:g.23607892A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607892A>C , CM000678.2:g.23607892A>C	GRCh38
NC_000016.9:g.23619213A>C , CM000678.1:g.23619213A>C	GRCh37
NC_000016.8:g.23526714A>C	NCBI36
NG_007406.1:g.38466T>G , LRG_308:g.38466T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3328T>G	ENSP00000460666.3:p.Tyr1110Asp
ENST00000565038.2:c.*803T>G	ENSP00000459882.2:n.*803T>G
ENST00000566069.6:c.3202-4223T>G	ENSP00000459237.2:n.3202-4223T>G
ENST00000697377.2:c.3166T>G	ENSP00000513286.2:p.Tyr1056Asp
ENST00000697379.2:c.3328T>G	ENSP00000513287.2:p.Tyr1110Asp
ENST00000561514.2:c.2437T>G	ENSP00000460666.2:p.Tyr813Asp
ENST00000697374.1:c.2437T>G	ENSP00000513284.1:p.Tyr813Asp
ENST00000697375.1:n.4669T>G
ENST00000697376.1:c.2317-4223T>G	ENSP00000513285.1:n.2317-4223T>G
ENST00000697377.1:c.2275T>G	ENSP00000513286.1:p.Tyr759Asp
ENST00000697378.1:n.3842T>G
ENST00000697379.1:c.2437T>G	ENSP00000513287.1:p.Tyr813Asp
ENST00000697380.1:n.2526T>G
ENST00000697381.1:n.2017T>G
ENST00000697382.1:c.*99T>G	ENSP00000513288.1:n.*99T>G
ENST00000697383.1:c.856T>G	ENSP00000513289.1:p.Tyr286Asp
ENST00000261584.9:c.3322T>G MANE Select	ENSP00000261584.4:p.Tyr1108Asp
ENST00000261584.8:c.3322T>G	ENSP00000261584.4:p.Tyr1108Asp
ENST00000566069.5:c.117-4223T>G
ENST00000568219.5:c.2437T>G	ENSP00000454703.2:p.Tyr813Asp
NM_024675.3:c.3322T>G , LRG_308t1:c.3322T>G	NP_078951.2:p.Tyr1108Asp
XM_011545946.1:c.3328T>G	XP_011544248.1:p.Tyr1110Asp
XM_011545947.1:c.3208-4223T>G	XP_011544249.1:n.3208-4223T>G
XM_011545948.1:c.2437T>G	XP_011544250.1:p.Tyr813Asp
XR_950851.1:n.4030T>G
XM_011545946.2:c.3328T>G	XP_011544248.1:p.Tyr1110Asp
XM_011545947.2:c.3208-4223T>G	XP_011544249.1:n.3208-4223T>G
XM_011545948.2:c.2437T>G	XP_011544250.1:p.Tyr813Asp
XM_017023671.1:c.3120-4223T>G	XP_016879160.1:n.3120-4223T>G
XM_017023672.2:c.3114-4223T>G	XP_016879161.1:n.3114-4223T>G
XM_017023673.2:c.3202-4223T>G	XP_016879162.1:n.3202-4223T>G
NM_024675.4:c.3322T>G MANE Select	NP_078951.2:p.Tyr1108Asp