Canonical Allele Identifier: CA395138240

Gene: PALB2

Linked Data

• ClinVar Variation Id: 484212
• ClinVar RCV Id: RCV000574784
• dbSNP Id: rs730881894
• gnomAD v2: 16-23614937-C-G
• gnomAD v4: 16-23603616-C-G
• MyVariant Identifiers: chr16:g.23614937C>G (hg19) ; chr16:g.23603616C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.3410G>C	ENSP00000460666.3:p.Gly1137Ala
ENST00000565038.2:c.*889G>C	ENSP00000459882.2:n.*889G>C
ENST00000566069.6:c.*39G>C	ENSP00000459237.2:n.*39G>C
ENST00000697377.2:c.3248G>C	ENSP00000513286.2:p.Gly1083Ala
ENST00000697379.2:c.3410G>C	ENSP00000513287.2:p.Gly1137Ala
ENST00000561514.2:c.2519G>C	ENSP00000460666.2:p.Gly840Ala
ENST00000697374.1:c.2519G>C	ENSP00000513284.1:p.Gly840Ala
ENST00000697375.1:n.4751G>C
ENST00000697376.1:c.*39G>C	ENSP00000513285.1:n.*39G>C
ENST00000697377.1:c.2357G>C	ENSP00000513286.1:p.Gly786Ala
ENST00000697378.1:n.3924G>C
ENST00000697379.1:c.2519G>C	ENSP00000513287.1:p.Gly840Ala
ENST00000697380.1:n.2608G>C
ENST00000697381.1:n.2099G>C
ENST00000697382.1:c.*181G>C	ENSP00000513288.1:n.*181G>C
ENST00000697383.1:c.938G>C	ENSP00000513289.1:p.Gly313Ala
ENST00000261584.9:c.3404G>C MANE Select	ENSP00000261584.4:p.Gly1135Ala
ENST00000261584.8:c.3404G>C	ENSP00000261584.4:p.Gly1135Ala
ENST00000566069.5:c.170G>C
ENST00000568219.5:c.2519G>C	ENSP00000454703.2:p.Gly840Ala
NM_024675.3:c.3404G>C , LRG_308t1:c.3404G>C	NP_078951.2:p.Gly1135Ala
XM_011545946.1:c.3410G>C	XP_011544248.1:p.Gly1137Ala
XM_011545947.1:c.*39G>C	XP_011544249.1:n.*39G>C
XM_011545948.1:c.2519G>C	XP_011544250.1:p.Gly840Ala
XR_950851.1:n.4112G>C
XM_011545946.2:c.3410G>C	XP_011544248.1:p.Gly1137Ala
XM_011545947.2:c.*39G>C	XP_011544249.1:n.*39G>C
XM_011545948.2:c.2519G>C	XP_011544250.1:p.Gly840Ala
XM_017023671.1:c.3173G>C	XP_016879160.1:p.Gly1058Ala
XM_017023672.2:c.3167G>C	XP_016879161.1:p.Gly1056Ala
XM_017023673.2:c.*39G>C	XP_016879162.1:n.*39G>C
NM_024675.4:c.3404G>C MANE Select	NP_078951.2:p.Gly1135Ala