Canonical Allele Identifier: CA10583388
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 241571
ClinVar RCV Id: RCV000231797 RCV000582525 RCV000657770
dbSNP Id: rs878855123
MyVariant Identifiers: chr16:g.23652472C>A (hg19) chr16:g.23641151C>A (hg38)
ERepo: CA10583388/MONDO:0016419/020
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641151C>A , CM000678.2:g.23641151C>A GRCh38
NC_000016.9:g.23652472C>A , CM000678.1:g.23652472C>A GRCh37
NC_000016.8:g.23559973C>A NCBI36
NG_007406.1:g.5207G>T , LRG_308:g.5207G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000561514.3:c.-846G>T ENSP00000460666.3:n.-846G>T
ENST00000565038.2:c.7G>T ENSP00000459882.2:p.Glu3Ter
ENST00000566069.6:c.7G>T ENSP00000459237.2:p.Glu3Ter
ENST00000697377.2:c.-233G>T ENSP00000513286.2:n.-233G>T
ENST00000697379.2:c.-139G>T ENSP00000513287.2:n.-139G>T
ENST00000561514.2:c.-1737G>T ENSP00000460666.2:n.-1737G>T
ENST00000697374.1:c.-1328G>T ENSP00000513284.1:n.-1328G>T
ENST00000697376.1:c.-1049G>T ENSP00000513285.1:n.-1049G>T
ENST00000697377.1:c.-1124G>T ENSP00000513286.1:n.-1124G>T
ENST00000697379.1:c.-1030G>T ENSP00000513287.1:n.-1030G>T
ENST00000697382.1:c.-1788G>T ENSP00000513288.1:n.-1788G>T
ENST00000697383.1:c.7G>T ENSP00000513289.1:p.Glu3Ter
ENST00000697384.1:n.161G>T
ENST00000261584.9:c.7G>T MANE Select ENSP00000261584.4:p.Glu3Ter
ENST00000261584.8:c.7G>T ENSP00000261584.4:p.Glu3Ter
ENST00000567003.1:n.151G>T
ENST00000568219.5:c.-862G>T ENSP00000454703.2:n.-862G>T
NM_024675.3:c.7G>T , LRG_308t1:c.7G>T NP_078951.2:p.Glu3Ter
XM_011545948.1:c.-1013G>T XP_011544250.1:n.-1013G>T
XM_011545946.2:c.-846G>T XP_011544248.1:n.-846G>T
XM_011545947.2:c.-846G>T XP_011544249.1:n.-846G>T
XM_011545948.2:c.-1013G>T XP_011544250.1:n.-1013G>T
XM_017023671.1:c.-846G>T XP_016879160.1:n.-846G>T
XM_017023672.2:c.7G>T XP_016879161.1:p.Glu3Ter
XM_017023673.2:c.7G>T XP_016879162.1:p.Glu3Ter
NM_024675.4:c.7G>T MANE Select NP_078951.2:p.Glu3Ter
Search 100 bp 5'
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