Canonical Allele Identifier: CA339433

Gene: PALB2

Linked Data

• ClinVar Variation Id: 216752
• ClinVar RCV Id: RCV000200608 ; RCV000568710
• dbSNP Id: rs863224785
• MyVariant Identifiers: chr16:g.23619326A>G (hg19) ; chr16:g.23608005A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23608005A>G , CM000678.2:g.23608005A>G	GRCh38
NC_000016.9:g.23619326A>G , CM000678.1:g.23619326A>G	GRCh37
NC_000016.8:g.23526827A>G	NCBI36
NG_007406.1:g.38353T>C , LRG_308:g.38353T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000261584.9:c.3209T>C MANE Select	ENSP00000261584.4:p.Leu1070Pro
ENST00000261584.8:c.3209T>C	ENSP00000261584.4:p.Leu1070Pro
ENST00000566069.5:n.117-4336T>C
ENST00000568219.5:c.2324T>C	ENSP00000454703.2:p.Leu775Pro
NM_024675.3:c.3209T>C , LRG_308t1:c.3209T>C	NP_078951.2:p.Leu1070Pro
XM_011545946.1:c.3215T>C	XP_011544248.1:p.Leu1072Pro
XM_011545947.1:c.3208-4336T>C	XP_011544249.1:p.=
XM_011545948.1:c.2324T>C	XP_011544250.1:p.Leu775Pro
XR_950851.1:n.3917T>C
XM_011545946.2:c.3215T>C	XP_011544248.1:p.Leu1072Pro
XM_011545947.2:c.3208-4336T>C	XP_011544249.1:p.=
XM_011545948.2:c.2324T>C	XP_011544250.1:p.Leu775Pro
XM_017023671.1:c.3120-4336T>C	XP_016879160.1:p.=
XM_017023672.2:c.3114-4336T>C	XP_016879161.1:p.=
XM_017023673.2:c.3202-4336T>C	XP_016879162.1:p.=
NM_024675.4:c.3209T>C MANE Select	NP_078951.2:p.Leu1070Pro