Canonical Allele Identifier: CA2010222
Gene: CERKL HGNC NCBI
ITGA4 HGNC NCBI

Linked Data

ClinVar Variation Id: 369320
ClinVar RCV Id: RCV000263150
dbSNP Id: rs2368213
ExAC: 2:182401388 C / T
gnomAD v2: 2-182401388-C-T
gnomAD v3: 2-181536661-C-T
gnomAD v4: 2-181536661-C-T
MyVariant Identifiers: chr2:g.182401388C>T (hg19) chr2:g.181536661C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181536661C>T , CM000664.2:g.181536661C>T GRCh38
NC_000002.11:g.182401388C>T , CM000664.1:g.182401388C>T GRCh37
NC_000002.10:g.182109633C>T NCBI36
NG_021178.1:g.125447G>A
NG_050623.1:g.84770C>T
NG_021178.2:g.125447G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000684145.1:c.*1523G>A (CERKL) ENSP00000508396.1:n.*1523G>A
ENST00000397033.7:c.*1134C>T (ITGA4) MANE Select ENSP00000380227.2:n.*1134C>T
NM_000885.4:c.*1134C>T (ITGA4) NP_000876.3:n.*1134C>T
NM_000885.5:c.*1134C>T (ITGA4) NP_000876.3:n.*1134C>T
NM_000885.6:c.*1134C>T (ITGA4) MANE Select NP_000876.3:n.*1134C>T
Search 100 bp 5'
Search 100 bp 3'