Canonical Allele Identifier: CA269467

Gene: PALB2

Linked Data

• ClinVar Variation Id: 126571
• ClinVar RCV Id: RCV000282144 ; RCV000374410 ; RCV000829438 ; RCV001030094
• dbSNP Id: rs138200248
• gnomAD v2: 16-23652636-C-G
• gnomAD v3: 16-23641315-C-G
• gnomAD v4: 16-23641315-C-G
• MyVariant Identifiers: chr16:g.23652636C>G (hg19) ; chr16:g.23641315C>G (hg38)
• PubMed: PMID:21285249 ; PMID:21618343 ; PMID:22052327 ; PMID:23824750

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.23641315C>G , CM000678.2:g.23641315C>G	GRCh38
NC_000016.9:g.23652636C>G , CM000678.1:g.23652636C>G	GRCh37
NC_000016.8:g.23560137C>G	NCBI36
NG_007406.1:g.5043G>C , LRG_308:g.5043G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697383.1:c.-158G>C	ENSP00000513289.1:n.-158G>C
NM_024675.3:c.-158G>C , LRG_308t1:c.-158G>C	NP_078951.2:n.-158G>C
XM_011545948.2:c.-1177G>C	XP_011544250.1:n.-1177G>C
XM_017023672.2:c.-158G>C	XP_016879161.1:n.-158G>C
XM_017023673.2:c.-158G>C	XP_016879162.1:n.-158G>C