Canonical Allele Identifier: CA395141175

Gene: PALB2

Linked Data

• dbSNP Id: rs2142481476
• MyVariant Identifiers: chr16:g.23652460T>C (hg19) ; chr16:g.23641139T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641139T>C , CM000678.2:g.23641139T>C	GRCh38
NC_000016.9:g.23652460T>C , CM000678.1:g.23652460T>C	GRCh37
NC_000016.8:g.23559961T>C	NCBI36
NG_007406.1:g.5219A>G , LRG_308:g.5219A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.-834A>G	ENSP00000460666.3:n.-834A>G
ENST00000565038.2:c.19A>G	ENSP00000459882.2:p.Lys7Glu
ENST00000566069.6:c.19A>G	ENSP00000459237.2:p.Lys7Glu
ENST00000697377.2:c.-221A>G	ENSP00000513286.2:n.-221A>G
ENST00000697379.2:c.-127A>G	ENSP00000513287.2:n.-127A>G
ENST00000561514.2:c.-1725A>G	ENSP00000460666.2:n.-1725A>G
ENST00000697374.1:c.-1316A>G	ENSP00000513284.1:n.-1316A>G
ENST00000697376.1:c.-1037A>G	ENSP00000513285.1:n.-1037A>G
ENST00000697377.1:c.-1112A>G	ENSP00000513286.1:n.-1112A>G
ENST00000697379.1:c.-1018A>G	ENSP00000513287.1:n.-1018A>G
ENST00000697382.1:c.-1776A>G	ENSP00000513288.1:n.-1776A>G
ENST00000697383.1:c.19A>G	ENSP00000513289.1:p.Lys7Glu
ENST00000697384.1:n.173A>G
ENST00000261584.9:c.19A>G MANE Select	ENSP00000261584.4:p.Lys7Glu
ENST00000261584.8:c.19A>G	ENSP00000261584.4:p.Lys7Glu
ENST00000567003.1:n.163A>G
ENST00000568219.5:c.-850A>G	ENSP00000454703.2:n.-850A>G
NM_024675.3:c.19A>G , LRG_308t1:c.19A>G	NP_078951.2:p.Lys7Glu
XM_011545948.1:c.-1001A>G	XP_011544250.1:n.-1001A>G
XM_011545946.2:c.-834A>G	XP_011544248.1:n.-834A>G
XM_011545947.2:c.-834A>G	XP_011544249.1:n.-834A>G
XM_011545948.2:c.-1001A>G	XP_011544250.1:n.-1001A>G
XM_017023671.1:c.-834A>G	XP_016879160.1:n.-834A>G
XM_017023672.2:c.19A>G	XP_016879161.1:p.Lys7Glu
XM_017023673.2:c.19A>G	XP_016879162.1:p.Lys7Glu
NM_024675.4:c.19A>G MANE Select	NP_078951.2:p.Lys7Glu