Canonical Allele Identifier: CA395138273

Gene: PALB2

Linked Data

• ClinVar Variation Id: 1730868
• ClinVar RCV Id: RCV002451877
• dbSNP Id: rs2142254906
• MyVariant Identifiers: chr16:g.23614953C>G (hg19) ; chr16:g.23603632C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23603632C>G , CM000678.2:g.23603632C>G	GRCh38
NC_000016.9:g.23614953C>G , CM000678.1:g.23614953C>G	GRCh37
NC_000016.8:g.23522454C>G	NCBI36
NG_007406.1:g.42726G>C , LRG_308:g.42726G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000561514.3:c.3394G>C	ENSP00000460666.3:p.Ala1132Pro
ENST00000565038.2:c.*873G>C	ENSP00000459882.2:n.*873G>C
ENST00000566069.6:c.*23G>C	ENSP00000459237.2:n.*23G>C
ENST00000697377.2:c.3232G>C	ENSP00000513286.2:p.Ala1078Pro
ENST00000697379.2:c.3394G>C	ENSP00000513287.2:p.Ala1132Pro
ENST00000561514.2:c.2503G>C	ENSP00000460666.2:p.Ala835Pro
ENST00000697374.1:c.2503G>C	ENSP00000513284.1:p.Ala835Pro
ENST00000697375.1:n.4735G>C
ENST00000697376.1:c.*23G>C	ENSP00000513285.1:n.*23G>C
ENST00000697377.1:c.2341G>C	ENSP00000513286.1:p.Ala781Pro
ENST00000697378.1:n.3908G>C
ENST00000697379.1:c.2503G>C	ENSP00000513287.1:p.Ala835Pro
ENST00000697380.1:n.2592G>C
ENST00000697381.1:n.2083G>C
ENST00000697382.1:c.*165G>C	ENSP00000513288.1:n.*165G>C
ENST00000697383.1:c.922G>C	ENSP00000513289.1:p.Ala308Pro
ENST00000261584.9:c.3388G>C MANE Select	ENSP00000261584.4:p.Ala1130Pro
ENST00000261584.8:c.3388G>C	ENSP00000261584.4:p.Ala1130Pro
ENST00000566069.5:c.154G>C
ENST00000568219.5:c.2503G>C	ENSP00000454703.2:p.Ala835Pro
NM_024675.3:c.3388G>C , LRG_308t1:c.3388G>C	NP_078951.2:p.Ala1130Pro
XM_011545946.1:c.3394G>C	XP_011544248.1:p.Ala1132Pro
XM_011545947.1:c.*23G>C	XP_011544249.1:n.*23G>C
XM_011545948.1:c.2503G>C	XP_011544250.1:p.Ala835Pro
XR_950851.1:n.4096G>C
XM_011545946.2:c.3394G>C	XP_011544248.1:p.Ala1132Pro
XM_011545947.2:c.*23G>C	XP_011544249.1:n.*23G>C
XM_011545948.2:c.2503G>C	XP_011544250.1:p.Ala835Pro
XM_017023671.1:c.3157G>C	XP_016879160.1:p.Ala1053Pro
XM_017023672.2:c.3151G>C	XP_016879161.1:p.Ala1051Pro
XM_017023673.2:c.*23G>C	XP_016879162.1:n.*23G>C
NM_024675.4:c.3388G>C MANE Select	NP_078951.2:p.Ala1130Pro