Canonical Allele Identifier: CA395136789

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1749430
• ClinVar RCV Id: RCV002349922
• dbSNP Id: rs2142440108
• MyVariant Identifiers: chr16:g.23647293C>T (hg19) ; chr16:g.23635972C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23635972C>T , CM000678.2:g.23635972C>T	GRCh38
NC_000016.9:g.23647293C>T , CM000678.1:g.23647293C>T	GRCh37
NC_000016.8:g.23554794C>T	NCBI36
NG_007406.1:g.10386G>A , LRG_308:g.10386G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000561514.3:c.580G>A	ENSP00000460666.3:p.Val194Ile
ENST00000565038.2:c.211+1878G>A	ENSP00000459882.2:n.211+1878G>A
ENST00000566069.6:c.574G>A	ENSP00000459237.2:p.Val192Ile
ENST00000697377.2:c.580G>A	ENSP00000513286.2:p.Val194Ile
ENST00000697379.2:c.580G>A	ENSP00000513287.2:p.Val194Ile
ENST00000561514.2:c.-312G>A	ENSP00000460666.2:n.-312G>A
ENST00000697374.1:c.-312G>A	ENSP00000513284.1:n.-312G>A
ENST00000697375.1:n.1921G>A
ENST00000697376.1:c.-312G>A	ENSP00000513285.1:n.-312G>A
ENST00000697377.1:c.-312G>A	ENSP00000513286.1:n.-312G>A
ENST00000697378.1:n.1094G>A
ENST00000697379.1:c.-312G>A	ENSP00000513287.1:n.-312G>A
ENST00000697382.1:c.-312G>A	ENSP00000513288.1:n.-312G>A
ENST00000697383.1:c.48+5138G>A	ENSP00000513289.1:n.48+5138G>A
ENST00000697384.1:n.728G>A
ENST00000261584.9:c.574G>A MANE Select	ENSP00000261584.4:p.Val192Ile
ENST00000261584.8:c.574G>A	ENSP00000261584.4:p.Val192Ile
ENST00000565038.1:c.86+1878G>A
ENST00000568219.5:c.-312G>A	ENSP00000454703.2:n.-312G>A
NM_024675.3:c.574G>A , LRG_308t1:c.574G>A	NP_078951.2:p.Val192Ile
XM_011545946.1:c.580G>A	XP_011544248.1:p.Val194Ile
XM_011545947.1:c.580G>A	XP_011544249.1:p.Val194Ile
XM_011545948.1:c.-312G>A	XP_011544250.1:n.-312G>A
XR_950851.1:n.1370G>A
XM_011545946.2:c.580G>A	XP_011544248.1:p.Val194Ile
XM_011545947.2:c.580G>A	XP_011544249.1:p.Val194Ile
XM_011545948.2:c.-312G>A	XP_011544250.1:n.-312G>A
XM_017023671.1:c.580G>A	XP_016879160.1:p.Val194Ile
XM_017023672.2:c.574G>A	XP_016879161.1:p.Val192Ile
XM_017023673.2:c.574G>A	XP_016879162.1:p.Val192Ile
NM_024675.4:c.574G>A MANE Select	NP_078951.2:p.Val192Ile