Canonical Allele Identifier: CA276567

Linked Data

ClinVar Variation Id: 209598
ClinVar RCV Id: RCV000191544
dbSNP Id: rs3092989

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.32315226G>A , CM000675.2:g.32315226G>A GRCh38
NC_000013.10:g.32889363G>A , CM000675.1:g.32889363G>A GRCh37
NC_000013.9:g.31787363G>A NCBI36
NG_012772.3:g.4747G>A , LRG_293:g.4747G>A
NG_017006.1:g.1729C>T
NG_017006.2:g.5138C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000533490.7:c.-390+89C>T (ZAR1L) MANE Select ENSP00000437289.2:n.-390+89C>T
ENST00000544455.6:c.-40+81G>A (BRCA2) ENSP00000439902.1:n.-40+81G>A
ENST00000533490.6:c.-390+89C>T (ZAR1L) ENSP00000437289.2:n.-390+89C>T
XM_011535203.1:c.-40+81G>A (BRCA2) XP_011533505.1:n.-40+81G>A
NM_001136571.2:c.-390+89C>T (ZAR1L) MANE Select NP_001130043.1:n.-390+89C>T