Canonical Allele Identifier: CA395139517

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1041270
• ClinVar RCV Id: RCV001345051
• dbSNP Id: rs1966507619
• MyVariant Identifiers: chr16:g.23619237T>C (hg19) ; chr16:g.23607916T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23607916T>C , CM000678.2:g.23607916T>C	GRCh38
NC_000016.9:g.23619237T>C , CM000678.1:g.23619237T>C	GRCh37
NC_000016.8:g.23526738T>C	NCBI36
NG_007406.1:g.38442A>G , LRG_308:g.38442A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3304A>G	ENSP00000460666.3:p.Thr1102Ala
ENST00000565038.2:c.*779A>G	ENSP00000459882.2:n.*779A>G
ENST00000566069.6:c.3202-4247A>G	ENSP00000459237.2:n.3202-4247A>G
ENST00000697377.2:c.3142A>G	ENSP00000513286.2:p.Thr1048Ala
ENST00000697379.2:c.3304A>G	ENSP00000513287.2:p.Thr1102Ala
ENST00000561514.2:c.2413A>G	ENSP00000460666.2:p.Thr805Ala
ENST00000697374.1:c.2413A>G	ENSP00000513284.1:p.Thr805Ala
ENST00000697375.1:n.4645A>G
ENST00000697376.1:c.2317-4247A>G	ENSP00000513285.1:n.2317-4247A>G
ENST00000697377.1:c.2251A>G	ENSP00000513286.1:p.Thr751Ala
ENST00000697378.1:n.3818A>G
ENST00000697379.1:c.2413A>G	ENSP00000513287.1:p.Thr805Ala
ENST00000697380.1:n.2502A>G
ENST00000697381.1:n.1993A>G
ENST00000697382.1:c.*75A>G	ENSP00000513288.1:n.*75A>G
ENST00000697383.1:c.832A>G	ENSP00000513289.1:p.Thr278Ala
ENST00000261584.9:c.3298A>G MANE Select	ENSP00000261584.4:p.Thr1100Ala
ENST00000261584.8:c.3298A>G	ENSP00000261584.4:p.Thr1100Ala
ENST00000566069.5:c.117-4247A>G
ENST00000568219.5:c.2413A>G	ENSP00000454703.2:p.Thr805Ala
NM_024675.3:c.3298A>G , LRG_308t1:c.3298A>G	NP_078951.2:p.Thr1100Ala
XM_011545946.1:c.3304A>G	XP_011544248.1:p.Thr1102Ala
XM_011545947.1:c.3208-4247A>G	XP_011544249.1:n.3208-4247A>G
XM_011545948.1:c.2413A>G	XP_011544250.1:p.Thr805Ala
XR_950851.1:n.4006A>G
XM_011545946.2:c.3304A>G	XP_011544248.1:p.Thr1102Ala
XM_011545947.2:c.3208-4247A>G	XP_011544249.1:n.3208-4247A>G
XM_011545948.2:c.2413A>G	XP_011544250.1:p.Thr805Ala
XM_017023671.1:c.3120-4247A>G	XP_016879160.1:n.3120-4247A>G
XM_017023672.2:c.3114-4247A>G	XP_016879161.1:n.3114-4247A>G
XM_017023673.2:c.3202-4247A>G	XP_016879162.1:n.3202-4247A>G
NM_024675.4:c.3298A>G MANE Select	NP_078951.2:p.Thr1100Ala