Canonical Allele Identifier: CA10621978
Gene: ITGA2 HGNC NCBI

Linked Data

ClinVar Variation Id: 353824
ClinVar RCV Id: RCV000265110 RCV000351146
dbSNP Id: rs72277253
gnomAD v2: 5-52388933-TCAAA-T
gnomAD v3: 5-53093103-TCAAA-T
gnomAD v4: 5-53093103-TCAAA-T
COSMIC: COSN20101217 COSN20101218
MyVariant Identifiers: chr5:g.52388946_52388949del (hg19) chr5:g.52388934_52388937del (hg19) chr5:g.53093116_53093119del (hg38) chr5:g.53093104_53093107del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53093116_53093119del , CM000667.2:g.53093116_53093119del GRCh38
NC_000005.9:g.52388946_52388949del , CM000667.1:g.52388946_52388949del GRCh37
NC_000005.8:g.52424703_52424706del NCBI36
NG_008330.1:g.108791_108794del
NG_008330.2:g.108791_108794del

Transcript Alleles

HGVS Amino-acid Change
ENST00000296585.10:c.*2517_*2520del MANE Select ENSP00000296585.5:n.*2517_*2520del
ENST00000296585.9:c.*2517_*2520del ENSP00000296585.5:n.*2517_*2520del
NM_002203.3:c.*2517_*2520del NP_002194.2:n.*2517_*2520del
NR_073103.1:n.6103_6106del
NR_073104.1:n.6064_6067del
NR_073105.1:n.6247_6250del
NR_073106.1:n.6198_6201del
NR_073107.1:n.6085_6088del
NM_002203.4:c.*2517_*2520del MANE Select NP_002194.2:n.*2517_*2520del
NR_073103.2:n.6077_6080del
NR_073104.2:n.6038_6041del
NR_073105.2:n.6221_6224del
NR_073106.2:n.6172_6175del
NR_073107.2:n.6059_6062del
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