Canonical Allele Identifier: CA494161171
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1615462
ClinVar RCV Id: RCV002074652
dbSNP Id: rs1555459927
MyVariant Identifiers: chr16:g.23637572G>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23626251G>C , CM000678.2:g.23626251G>C GRCh38
NC_000016.9:g.23637572G>C , CM000678.1:g.23637572G>C GRCh37
NC_000016.8:g.23545073G>C NCBI36
NG_007406.1:g.20107C>G , LRG_308:g.20107C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.2739C>G ENSP00000460666.3:p.Thr913=
ENST00000565038.2:c.*214C>G ENSP00000459882.2:n.*214C>G
ENST00000566069.6:c.2733C>G ENSP00000459237.2:p.Thr911=
ENST00000697377.2:c.2593-2157C>G ENSP00000513286.2:n.2593-2157C>G
ENST00000697379.2:c.2739C>G ENSP00000513287.2:p.Thr913=
ENST00000561514.2:c.1848C>G ENSP00000460666.2:p.Thr616=
ENST00000697374.1:c.1848C>G ENSP00000513284.1:p.Thr616=
ENST00000697375.1:n.4080C>G
ENST00000697376.1:c.1848C>G ENSP00000513285.1:p.Thr616=
ENST00000697377.1:c.1702-2157C>G ENSP00000513286.1:n.1702-2157C>G
ENST00000697378.1:n.3253C>G
ENST00000697379.1:c.1848C>G ENSP00000513287.1:p.Thr616=
ENST00000697380.1:n.2025C>G
ENST00000697381.1:n.1428C>G
ENST00000697382.1:c.1848C>G ENSP00000513288.1:p.Thr616=
ENST00000697383.1:c.267C>G ENSP00000513289.1:p.Thr89=
ENST00000261584.9:c.2733C>G MANE Select ENSP00000261584.4:p.Thr911=
ENST00000261584.8:c.2733C>G ENSP00000261584.4:p.Thr911=
ENST00000565038.1:c.305C>G
ENST00000568219.5:c.1848C>G ENSP00000454703.2:p.Thr616=
NM_024675.3:c.2733C>G , LRG_308t1:c.2733C>G NP_078951.2:p.Thr911=
XM_011545946.1:c.2739C>G XP_011544248.1:p.Thr913=
XM_011545947.1:c.2739C>G XP_011544249.1:p.Thr913=
XM_011545948.1:c.1848C>G XP_011544250.1:p.Thr616=
XR_950851.1:n.3529C>G
XM_011545946.2:c.2739C>G XP_011544248.1:p.Thr913=
XM_011545947.2:c.2739C>G XP_011544249.1:p.Thr913=
XM_011545948.2:c.1848C>G XP_011544250.1:p.Thr616=
XM_017023671.1:c.2739C>G XP_016879160.1:p.Thr913=
XM_017023672.2:c.2733C>G XP_016879161.1:p.Thr911=
XM_017023673.2:c.2733C>G XP_016879162.1:p.Thr911=
NM_024675.4:c.2733C>G MANE Select NP_078951.2:p.Thr911=