Canonical Allele Identifier: CA395121845

Gene: PALB2

Linked Data

• ClinVar Variation Id: 2498117
• ClinVar RCV Id: RCV003219178 ; RCV003321982
• MyVariant Identifiers: chr16:g.23637571A>C (hg19) ; chr16:g.23626250A>C (hg38)
• ERepo: CA395121845/MONDO:0016419/020

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23626250A>C , CM000678.2:g.23626250A>C	GRCh38
NC_000016.9:g.23637571A>C , CM000678.1:g.23637571A>C	GRCh37
NC_000016.8:g.23545072A>C	NCBI36
NG_007406.1:g.20108T>G , LRG_308:g.20108T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.2740T>G	ENSP00000460666.3:p.Trp914Gly
ENST00000565038.2:c.*215T>G	ENSP00000459882.2:n.*215T>G
ENST00000566069.6:c.2734T>G	ENSP00000459237.2:p.Trp912Gly
ENST00000697377.2:c.2593-2156T>G	ENSP00000513286.2:n.2593-2156T>G
ENST00000697379.2:c.2740T>G	ENSP00000513287.2:p.Trp914Gly
ENST00000561514.2:c.1849T>G	ENSP00000460666.2:p.Trp617Gly
ENST00000697374.1:c.1849T>G	ENSP00000513284.1:p.Trp617Gly
ENST00000697375.1:n.4081T>G
ENST00000697376.1:c.1849T>G	ENSP00000513285.1:p.Trp617Gly
ENST00000697377.1:c.1702-2156T>G	ENSP00000513286.1:n.1702-2156T>G
ENST00000697378.1:n.3254T>G
ENST00000697379.1:c.1849T>G	ENSP00000513287.1:p.Trp617Gly
ENST00000697380.1:n.2026T>G
ENST00000697381.1:n.1429T>G
ENST00000697382.1:c.1849T>G	ENSP00000513288.1:p.Trp617Gly
ENST00000697383.1:c.268T>G	ENSP00000513289.1:p.Trp90Gly
ENST00000261584.9:c.2734T>G MANE Select	ENSP00000261584.4:p.Trp912Gly
ENST00000261584.8:c.2734T>G	ENSP00000261584.4:p.Trp912Gly
ENST00000565038.1:c.306T>G
ENST00000568219.5:c.1849T>G	ENSP00000454703.2:p.Trp617Gly
NM_024675.3:c.2734T>G , LRG_308t1:c.2734T>G	NP_078951.2:p.Trp912Gly
XM_011545946.1:c.2740T>G	XP_011544248.1:p.Trp914Gly
XM_011545947.1:c.2740T>G	XP_011544249.1:p.Trp914Gly
XM_011545948.1:c.1849T>G	XP_011544250.1:p.Trp617Gly
XR_950851.1:n.3530T>G
XM_011545946.2:c.2740T>G	XP_011544248.1:p.Trp914Gly
XM_011545947.2:c.2740T>G	XP_011544249.1:p.Trp914Gly
XM_011545948.2:c.1849T>G	XP_011544250.1:p.Trp617Gly
XM_017023671.1:c.2740T>G	XP_016879160.1:p.Trp914Gly
XM_017023672.2:c.2734T>G	XP_016879161.1:p.Trp912Gly
XM_017023673.2:c.2734T>G	XP_016879162.1:p.Trp912Gly
NM_024675.4:c.2734T>G MANE Select	NP_078951.2:p.Trp912Gly