Canonical Allele Identifier: CA395143241
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 835767
ClinVar RCV Id: RCV001036729
dbSNP Id: rs1966773345
MyVariant Identifiers: chr16:g.23632798C>T (hg19) chr16:g.23621477C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23621477C>T , CM000678.2:g.23621477C>T GRCh38
NC_000016.9:g.23632798C>T , CM000678.1:g.23632798C>T GRCh37
NC_000016.8:g.23540299C>T NCBI36
NG_007406.1:g.24881G>A , LRG_308:g.24881G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.3004G>A ENSP00000460666.3:p.Gly1002Ser
ENST00000565038.2:c.*479G>A ENSP00000459882.2:n.*479G>A
ENST00000566069.6:c.2998G>A ENSP00000459237.2:p.Gly1000Ser
ENST00000697377.2:c.2842G>A ENSP00000513286.2:p.Gly948Ser
ENST00000697379.2:c.3004G>A ENSP00000513287.2:p.Gly1002Ser
ENST00000561514.2:c.2113G>A ENSP00000460666.2:p.Gly705Ser
ENST00000697374.1:c.2113G>A ENSP00000513284.1:p.Gly705Ser
ENST00000697375.1:n.4345G>A
ENST00000697376.1:c.2113G>A ENSP00000513285.1:p.Gly705Ser
ENST00000697377.1:c.1951G>A ENSP00000513286.1:p.Gly651Ser
ENST00000697378.1:n.3518G>A
ENST00000697379.1:c.2113G>A ENSP00000513287.1:p.Gly705Ser
ENST00000697380.1:n.2290G>A
ENST00000697381.1:n.1693G>A
ENST00000697382.1:c.2113G>A ENSP00000513288.1:p.Gly705Ser
ENST00000697383.1:c.532G>A ENSP00000513289.1:p.Gly178Ser
ENST00000261584.9:c.2998G>A MANE Select ENSP00000261584.4:p.Gly1000Ser
ENST00000261584.8:c.2998G>A ENSP00000261584.4:p.Gly1000Ser
ENST00000568219.5:c.2113G>A ENSP00000454703.2:p.Gly705Ser
NM_024675.3:c.2998G>A , LRG_308t1:c.2998G>A NP_078951.2:p.Gly1000Ser
XM_011545946.1:c.3004G>A XP_011544248.1:p.Gly1002Ser
XM_011545947.1:c.3004G>A XP_011544249.1:p.Gly1002Ser
XM_011545948.1:c.2113G>A XP_011544250.1:p.Gly705Ser
XR_950851.1:n.3794G>A
XM_011545946.2:c.3004G>A XP_011544248.1:p.Gly1002Ser
XM_011545947.2:c.3004G>A XP_011544249.1:p.Gly1002Ser
XM_011545948.2:c.2113G>A XP_011544250.1:p.Gly705Ser
XM_017023671.1:c.3004G>A XP_016879160.1:p.Gly1002Ser
XM_017023672.2:c.2998G>A XP_016879161.1:p.Gly1000Ser
XM_017023673.2:c.2998G>A XP_016879162.1:p.Gly1000Ser
NM_024675.4:c.2998G>A MANE Select NP_078951.2:p.Gly1000Ser
Search 100 bp 5'
Search 100 bp 3'