Canonical Allele Identifier: CA494173482

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1425698
• ClinVar RCV Id: RCV001926845 ; RCV002458822
• dbSNP Id: rs1164709092
• gnomAD v2: 16-23614783-T-C
• gnomAD v3: 16-23603462-T-C
• gnomAD v4: 16-23603462-T-C
• MyVariant Identifiers: chr16:g.23614783T>C (hg19) ; chr16:g.23603462T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603462T>C , CM000678.2:g.23603462T>C	GRCh38
NC_000016.9:g.23614783T>C , CM000678.1:g.23614783T>C	GRCh37
NC_000016.8:g.23522284T>C	NCBI36
NG_007406.1:g.42896A>G , LRG_308:g.42896A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3564A>G	ENSP00000460666.3:p.Ser1188=
ENST00000565038.2:c.*1043A>G	ENSP00000459882.2:n.*1043A>G
ENST00000566069.6:c.*193A>G	ENSP00000459237.2:n.*193A>G
ENST00000697377.2:c.3402A>G	ENSP00000513286.2:p.Ser1134=
ENST00000697379.2:c.3564A>G	ENSP00000513287.2:p.Ser1188=
ENST00000561514.2:c.2673A>G	ENSP00000460666.2:p.Ser891=
ENST00000697374.1:c.2673A>G	ENSP00000513284.1:p.Ser891=
ENST00000697375.1:n.4905A>G
ENST00000697376.1:c.*193A>G	ENSP00000513285.1:n.*193A>G
ENST00000697377.1:c.2511A>G	ENSP00000513286.1:p.Ser837=
ENST00000697378.1:n.4078A>G
ENST00000697379.1:c.2673A>G	ENSP00000513287.1:p.Ser891=
ENST00000697380.1:n.2762A>G
ENST00000697381.1:n.2253A>G
ENST00000697382.1:c.*335A>G	ENSP00000513288.1:n.*335A>G
ENST00000697383.1:c.1092A>G	ENSP00000513289.1:p.Ser364=
ENST00000261584.9:c.3558A>G MANE Select	ENSP00000261584.4:p.Ser1186=
ENST00000261584.8:c.3558A>G	ENSP00000261584.4:p.Ser1186=
ENST00000566069.5:c.324A>G
ENST00000568219.5:c.2673A>G	ENSP00000454703.2:p.Ser891=
NM_024675.3:c.3558A>G , LRG_308t1:c.3558A>G	NP_078951.2:p.Ser1186=
XM_011545946.1:c.3564A>G	XP_011544248.1:p.Ser1188=
XM_011545947.1:c.*193A>G	XP_011544249.1:n.*193A>G
XM_011545948.1:c.2673A>G	XP_011544250.1:p.Ser891=
XR_950851.1:n.4266A>G
XM_011545946.2:c.3564A>G	XP_011544248.1:p.Ser1188=
XM_011545947.2:c.*193A>G	XP_011544249.1:n.*193A>G
XM_011545948.2:c.2673A>G	XP_011544250.1:p.Ser891=
XM_017023671.1:c.3327A>G	XP_016879160.1:p.Ser1109=
XM_017023672.2:c.3321A>G	XP_016879161.1:p.Ser1107=
XM_017023673.2:c.*193A>G	XP_016879162.1:n.*193A>G
NM_024675.4:c.3558A>G MANE Select	NP_078951.2:p.Ser1186=