Canonical Allele Identifier: CA16042152
Gene: PALB2 HGNC NCBI

Linked Data

ClinVar Variation Id: 371919
ClinVar RCV Id: RCV000410696 RCV000505935 RCV000567207
dbSNP Id: rs1057517585
gnomAD v4: 16-23641155-C-T
MyVariant Identifiers: chr16:g.23652476C>T (hg19) chr16:g.23641155C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.23641155C>T , CM000678.2:g.23641155C>T GRCh38
NC_000016.9:g.23652476C>T , CM000678.1:g.23652476C>T GRCh37
NC_000016.8:g.23559977C>T NCBI36
NG_007406.1:g.5203G>A , LRG_308:g.5203G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000561514.3:c.-850G>A ENSP00000460666.3:n.-850G>A
ENST00000565038.2:c.3G>A ENSP00000459882.2:p.Met1Ile
ENST00000566069.6:c.3G>A ENSP00000459237.2:p.Met1Ile
ENST00000697377.2:c.-237G>A ENSP00000513286.2:n.-237G>A
ENST00000697379.2:c.-143G>A ENSP00000513287.2:n.-143G>A
ENST00000561514.2:c.-1741G>A ENSP00000460666.2:n.-1741G>A
ENST00000697374.1:c.-1332G>A ENSP00000513284.1:n.-1332G>A
ENST00000697376.1:c.-1053G>A ENSP00000513285.1:n.-1053G>A
ENST00000697377.1:c.-1128G>A ENSP00000513286.1:n.-1128G>A
ENST00000697379.1:c.-1034G>A ENSP00000513287.1:n.-1034G>A
ENST00000697382.1:c.-1792G>A ENSP00000513288.1:n.-1792G>A
ENST00000697383.1:c.3G>A ENSP00000513289.1:p.Met1Ile
ENST00000697384.1:n.157G>A
ENST00000261584.9:c.3G>A MANE Select ENSP00000261584.4:p.Met1Ile
ENST00000261584.8:c.3G>A ENSP00000261584.4:p.Met1Ile
ENST00000567003.1:n.147G>A
ENST00000568219.5:c.-866G>A ENSP00000454703.2:n.-866G>A
NM_024675.3:c.3G>A , LRG_308t1:c.3G>A NP_078951.2:p.Met1Ile
XM_011545948.1:c.-1017G>A XP_011544250.1:n.-1017G>A
XM_011545946.2:c.-850G>A XP_011544248.1:n.-850G>A
XM_011545947.2:c.-850G>A XP_011544249.1:n.-850G>A
XM_011545948.2:c.-1017G>A XP_011544250.1:n.-1017G>A
XM_017023671.1:c.-850G>A XP_016879160.1:n.-850G>A
XM_017023672.2:c.3G>A XP_016879161.1:p.Met1Ile
XM_017023673.2:c.3G>A XP_016879162.1:p.Met1Ile
NM_024675.4:c.3G>A MANE Select NP_078951.2:p.Met1Ile
Search 100 bp 5'
Search 100 bp 3'