Canonical Allele Identifier: CA395137912

Gene: PALB2

Linked Data

• dbSNP Id: rs2142252321
• MyVariant Identifiers: chr16:g.23614844C>G (hg19) ; chr16:g.23603523C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603523C>G , CM000678.2:g.23603523C>G	GRCh38
NC_000016.9:g.23614844C>G , CM000678.1:g.23614844C>G	GRCh37
NC_000016.8:g.23522345C>G	NCBI36
NG_007406.1:g.42835G>C , LRG_308:g.42835G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3503G>C	ENSP00000460666.3:p.Gly1168Ala
ENST00000565038.2:c.*982G>C	ENSP00000459882.2:n.*982G>C
ENST00000566069.6:c.*132G>C	ENSP00000459237.2:n.*132G>C
ENST00000697377.2:c.3341G>C	ENSP00000513286.2:p.Gly1114Ala
ENST00000697379.2:c.3503G>C	ENSP00000513287.2:p.Gly1168Ala
ENST00000561514.2:c.2612G>C	ENSP00000460666.2:p.Gly871Ala
ENST00000697374.1:c.2612G>C	ENSP00000513284.1:p.Gly871Ala
ENST00000697375.1:n.4844G>C
ENST00000697376.1:c.*132G>C	ENSP00000513285.1:n.*132G>C
ENST00000697377.1:c.2450G>C	ENSP00000513286.1:p.Gly817Ala
ENST00000697378.1:n.4017G>C
ENST00000697379.1:c.2612G>C	ENSP00000513287.1:p.Gly871Ala
ENST00000697380.1:n.2701G>C
ENST00000697381.1:n.2192G>C
ENST00000697382.1:c.*274G>C	ENSP00000513288.1:n.*274G>C
ENST00000697383.1:c.1031G>C	ENSP00000513289.1:p.Gly344Ala
ENST00000261584.9:c.3497G>C MANE Select	ENSP00000261584.4:p.Gly1166Ala
ENST00000261584.8:c.3497G>C	ENSP00000261584.4:p.Gly1166Ala
ENST00000566069.5:c.263G>C
ENST00000568219.5:c.2612G>C	ENSP00000454703.2:p.Gly871Ala
NM_024675.3:c.3497G>C , LRG_308t1:c.3497G>C	NP_078951.2:p.Gly1166Ala
XM_011545946.1:c.3503G>C	XP_011544248.1:p.Gly1168Ala
XM_011545947.1:c.*132G>C	XP_011544249.1:n.*132G>C
XM_011545948.1:c.2612G>C	XP_011544250.1:p.Gly871Ala
XR_950851.1:n.4205G>C
XM_011545946.2:c.3503G>C	XP_011544248.1:p.Gly1168Ala
XM_011545947.2:c.*132G>C	XP_011544249.1:n.*132G>C
XM_011545948.2:c.2612G>C	XP_011544250.1:p.Gly871Ala
XM_017023671.1:c.3266G>C	XP_016879160.1:p.Gly1089Ala
XM_017023672.2:c.3260G>C	XP_016879161.1:p.Gly1087Ala
XM_017023673.2:c.*132G>C	XP_016879162.1:n.*132G>C
NM_024675.4:c.3497G>C MANE Select	NP_078951.2:p.Gly1166Ala