Canonical Allele Identifier: CA395138239

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1007382
• ClinVar RCV Id: RCV001304558
• dbSNP Id: rs730881894
• MyVariant Identifiers: chr16:g.23614937C>A (hg19) ; chr16:g.23603616C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603616C>A , CM000678.2:g.23603616C>A	GRCh38
NC_000016.9:g.23614937C>A , CM000678.1:g.23614937C>A	GRCh37
NC_000016.8:g.23522438C>A	NCBI36
NG_007406.1:g.42742G>T , LRG_308:g.42742G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3410G>T	ENSP00000460666.3:p.Gly1137Val
ENST00000565038.2:c.*889G>T	ENSP00000459882.2:n.*889G>T
ENST00000566069.6:c.*39G>T	ENSP00000459237.2:n.*39G>T
ENST00000697377.2:c.3248G>T	ENSP00000513286.2:p.Gly1083Val
ENST00000697379.2:c.3410G>T	ENSP00000513287.2:p.Gly1137Val
ENST00000561514.2:c.2519G>T	ENSP00000460666.2:p.Gly840Val
ENST00000697374.1:c.2519G>T	ENSP00000513284.1:p.Gly840Val
ENST00000697375.1:n.4751G>T
ENST00000697376.1:c.*39G>T	ENSP00000513285.1:n.*39G>T
ENST00000697377.1:c.2357G>T	ENSP00000513286.1:p.Gly786Val
ENST00000697378.1:n.3924G>T
ENST00000697379.1:c.2519G>T	ENSP00000513287.1:p.Gly840Val
ENST00000697380.1:n.2608G>T
ENST00000697381.1:n.2099G>T
ENST00000697382.1:c.*181G>T	ENSP00000513288.1:n.*181G>T
ENST00000697383.1:c.938G>T	ENSP00000513289.1:p.Gly313Val
ENST00000261584.9:c.3404G>T MANE Select	ENSP00000261584.4:p.Gly1135Val
ENST00000261584.8:c.3404G>T	ENSP00000261584.4:p.Gly1135Val
ENST00000566069.5:c.170G>T
ENST00000568219.5:c.2519G>T	ENSP00000454703.2:p.Gly840Val
NM_024675.3:c.3404G>T , LRG_308t1:c.3404G>T	NP_078951.2:p.Gly1135Val
XM_011545946.1:c.3410G>T	XP_011544248.1:p.Gly1137Val
XM_011545947.1:c.*39G>T	XP_011544249.1:n.*39G>T
XM_011545948.1:c.2519G>T	XP_011544250.1:p.Gly840Val
XR_950851.1:n.4112G>T
XM_011545946.2:c.3410G>T	XP_011544248.1:p.Gly1137Val
XM_011545947.2:c.*39G>T	XP_011544249.1:n.*39G>T
XM_011545948.2:c.2519G>T	XP_011544250.1:p.Gly840Val
XM_017023671.1:c.3173G>T	XP_016879160.1:p.Gly1058Val
XM_017023672.2:c.3167G>T	XP_016879161.1:p.Gly1056Val
XM_017023673.2:c.*39G>T	XP_016879162.1:n.*39G>T
NM_024675.4:c.3404G>T MANE Select	NP_078951.2:p.Gly1135Val