Canonical Allele Identifier: CA345909188

Gene: RAD51AP2

Linked Data

• ClinVar Variation Id: 2297953
• ClinVar RCV Id: RCV004147510
• gnomAD v4: 2-17516285-T-C
• MyVariant Identifiers: chr2:g.17697552T>C (hg19) ; chr2:g.17516285T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.17516285T>C , CM000664.2:g.17516285T>C	GRCh38
NC_000002.11:g.17697552T>C , CM000664.1:g.17697552T>C	GRCh37
NC_000002.10:g.17561033T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399080.3:c.2131A>G MANE Select	ENSP00000382030.2:p.Met711Val
ENST00000399080.2:c.2131A>G	ENSP00000382030.2:p.Met711Val
NM_001099218.2:c.2131A>G	NP_001092688.1:p.Met711Val
XM_005262625.1:c.2104A>G	XP_005262682.1:p.Met702Val
XM_011533084.1:c.2131A>G	XP_011531386.1:p.Met711Val
NM_001321233.1:c.2104A>G	NP_001308162.1:p.Met702Val
XM_011533084.2:c.2131A>G	XP_011531386.1:p.Met711Val
XM_024453116.1:c.2104A>G	XP_024308884.1:p.Met702Val
XM_024453117.1:c.2104A>G	XP_024308885.1:p.Met702Val
XM_024453118.1:c.2104A>G	XP_024308886.1:p.Met702Val
NM_001099218.3:c.2131A>G MANE Select	NP_001092688.1:p.Met711Val