Canonical Allele Identifier: CA832019739
Gene: CAV2 HGNC NCBI

Linked Data

dbSNP Id: rs1290338527
gnomAD v3: 7-116508169-A-AT
gnomAD v4: 7-116508169-A-AT
MyVariant Identifiers: chr7:g.116148223_116148224insT (hg19) chr7:g.116508169_116508170insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.116508175dup , CM000669.2:g.116508175dup GRCh38
NC_000007.13:g.116148229dup , CM000669.1:g.116148229dup GRCh37
NC_000007.12:g.115935465dup NCBI36
NG_029920.1:g.13575dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000222693.5:c.*2054dup MANE Select ENSP00000222693.4:n.*2054dup
ENST00000222693.4:c.*2054dup ENSP00000222693.4:n.*2054dup
NM_001206747.1:c.*2054dup NP_001193676.1:n.*2054dup
NM_001206748.1:c.*2054dup NP_001193677.1:n.*2054dup
NM_001233.4:c.*2054dup NP_001224.1:n.*2054dup
NM_198212.2:c.*2016dup NP_937855.1:n.*2016dup
NM_001233.5:c.*2054dup MANE Select NP_001224.1:n.*2054dup
NM_001206747.2:c.*2054dup NP_001193676.1:n.*2054dup
NM_001206748.2:c.*2054dup NP_001193677.1:n.*2054dup
NM_198212.3:c.*2016dup NP_937855.1:n.*2016dup
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