Canonical Allele Identifier: CA198426

Gene: PALB2

Linked Data

• ClinVar Variation Id: 187730
• ClinVar RCV Id: RCV000167483 ; RCV000456974
• dbSNP Id: rs771246748
• ExAC: 16:23641517 C / T
• gnomAD v2: 16-23641517-C-T
• gnomAD v3: 16-23630196-C-T
• gnomAD v4: 16-23630196-C-T
• MyVariant Identifiers: chr16:g.23641517C>T (hg19) ; chr16:g.23630196C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23630196C>T , CM000678.2:g.23630196C>T	GRCh38
NC_000016.9:g.23641517C>T , CM000678.1:g.23641517C>T	GRCh37
NC_000016.8:g.23549018C>T	NCBI36
NG_007406.1:g.16162G>A , LRG_308:g.16162G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.1964G>A	ENSP00000460666.3:p.Cys655Tyr
ENST00000565038.2:c.212-921G>A	ENSP00000459882.2:n.212-921G>A
ENST00000566069.6:c.1958G>A	ENSP00000459237.2:p.Cys653Tyr
ENST00000697377.2:c.1964G>A	ENSP00000513286.2:p.Cys655Tyr
ENST00000697379.2:c.1964G>A	ENSP00000513287.2:p.Cys655Tyr
ENST00000561514.2:c.1073G>A	ENSP00000460666.2:p.Cys358Tyr
ENST00000697374.1:c.1073G>A	ENSP00000513284.1:p.Cys358Tyr
ENST00000697375.1:n.3305G>A
ENST00000697376.1:c.1073G>A	ENSP00000513285.1:p.Cys358Tyr
ENST00000697377.1:c.1073G>A	ENSP00000513286.1:p.Cys358Tyr
ENST00000697378.1:n.2478G>A
ENST00000697379.1:c.1073G>A	ENSP00000513287.1:p.Cys358Tyr
ENST00000697380.1:n.886G>A
ENST00000697381.1:n.653G>A
ENST00000697382.1:c.1073G>A	ENSP00000513288.1:p.Cys358Tyr
ENST00000697383.1:c.49-921G>A	ENSP00000513289.1:n.49-921G>A
ENST00000697384.1:n.2112G>A
ENST00000261584.9:c.1958G>A MANE Select	ENSP00000261584.4:p.Cys653Tyr
ENST00000261584.8:c.1958G>A	ENSP00000261584.4:p.Cys653Tyr
ENST00000565038.1:c.87-921G>A
ENST00000568219.5:c.1073G>A	ENSP00000454703.2:p.Cys358Tyr
NM_024675.3:c.1958G>A , LRG_308t1:c.1958G>A	NP_078951.2:p.Cys653Tyr
XM_011545946.1:c.1964G>A	XP_011544248.1:p.Cys655Tyr
XM_011545947.1:c.1964G>A	XP_011544249.1:p.Cys655Tyr
XM_011545948.1:c.1073G>A	XP_011544250.1:p.Cys358Tyr
XR_950851.1:n.2754G>A
XM_011545946.2:c.1964G>A	XP_011544248.1:p.Cys655Tyr
XM_011545947.2:c.1964G>A	XP_011544249.1:p.Cys655Tyr
XM_011545948.2:c.1073G>A	XP_011544250.1:p.Cys358Tyr
XM_017023671.1:c.1964G>A	XP_016879160.1:p.Cys655Tyr
XM_017023672.2:c.1958G>A	XP_016879161.1:p.Cys653Tyr
XM_017023673.2:c.1958G>A	XP_016879162.1:p.Cys653Tyr
NM_024675.4:c.1958G>A MANE Select	NP_078951.2:p.Cys653Tyr