Canonical Allele Identifier: CA395138286

Gene: PALB2

Linked Data

• ClinVar Variation Id: 845423
• ClinVar RCV Id: RCV001048484
• dbSNP Id: rs1966404870
• MyVariant Identifiers: chr16:g.23614958G>C (hg19) ; chr16:g.23603637G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603637G>C , CM000678.2:g.23603637G>C	GRCh38
NC_000016.9:g.23614958G>C , CM000678.1:g.23614958G>C	GRCh37
NC_000016.8:g.23522459G>C	NCBI36
NG_007406.1:g.42721C>G , LRG_308:g.42721C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3389C>G	ENSP00000460666.3:p.Ala1130Gly
ENST00000565038.2:c.*868C>G	ENSP00000459882.2:n.*868C>G
ENST00000566069.6:c.*18C>G	ENSP00000459237.2:n.*18C>G
ENST00000697377.2:c.3227C>G	ENSP00000513286.2:p.Ala1076Gly
ENST00000697379.2:c.3389C>G	ENSP00000513287.2:p.Ala1130Gly
ENST00000561514.2:c.2498C>G	ENSP00000460666.2:p.Ala833Gly
ENST00000697374.1:c.2498C>G	ENSP00000513284.1:p.Ala833Gly
ENST00000697375.1:n.4730C>G
ENST00000697376.1:c.*18C>G	ENSP00000513285.1:n.*18C>G
ENST00000697377.1:c.2336C>G	ENSP00000513286.1:p.Ala779Gly
ENST00000697378.1:n.3903C>G
ENST00000697379.1:c.2498C>G	ENSP00000513287.1:p.Ala833Gly
ENST00000697380.1:n.2587C>G
ENST00000697381.1:n.2078C>G
ENST00000697382.1:c.*160C>G	ENSP00000513288.1:n.*160C>G
ENST00000697383.1:c.917C>G	ENSP00000513289.1:p.Ala306Gly
ENST00000261584.9:c.3383C>G MANE Select	ENSP00000261584.4:p.Ala1128Gly
ENST00000261584.8:c.3383C>G	ENSP00000261584.4:p.Ala1128Gly
ENST00000566069.5:c.149C>G
ENST00000568219.5:c.2498C>G	ENSP00000454703.2:p.Ala833Gly
NM_024675.3:c.3383C>G , LRG_308t1:c.3383C>G	NP_078951.2:p.Ala1128Gly
XM_011545946.1:c.3389C>G	XP_011544248.1:p.Ala1130Gly
XM_011545947.1:c.*18C>G	XP_011544249.1:n.*18C>G
XM_011545948.1:c.2498C>G	XP_011544250.1:p.Ala833Gly
XR_950851.1:n.4091C>G
XM_011545946.2:c.3389C>G	XP_011544248.1:p.Ala1130Gly
XM_011545947.2:c.*18C>G	XP_011544249.1:n.*18C>G
XM_011545948.2:c.2498C>G	XP_011544250.1:p.Ala833Gly
XM_017023671.1:c.3152C>G	XP_016879160.1:p.Ala1051Gly
XM_017023672.2:c.3146C>G	XP_016879161.1:p.Ala1049Gly
XM_017023673.2:c.*18C>G	XP_016879162.1:n.*18C>G
NM_024675.4:c.3383C>G MANE Select	NP_078951.2:p.Ala1128Gly