Canonical Allele Identifier: CA752883886
Gene: CACNG2 HGNC NCBI

Linked Data

dbSNP Id: rs1215348662
gnomAD v2: 22-37097448-TCCATAGCGTGATCCC-T
gnomAD v3: 22-36701403-TCCATAGCGTGATCCC-T
gnomAD v4: 22-36701403-TCCATAGCGTGATCCC-T
MyVariant Identifiers: chr22:g.37097449_37097463del (hg19) chr22:g.36701404_36701418del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.36701407_36701421del , CM000684.2:g.36701407_36701421del GRCh38
NC_000022.10:g.37097452_37097466del , CM000684.1:g.37097452_37097466del GRCh37
NC_000022.9:g.35427398_35427412del NCBI36
NG_031861.1:g.6228_6242del
NG_031861.2:g.6441_6455del

Transcript Alleles

HGVS Amino-acid Change
ENST00000300105.7:c.211+948_211+962del MANE Select ENSP00000300105.6:n.211+948_211+962del
ENST00000300105.6:c.211+948_211+962del ENSP00000300105.6:n.211+948_211+962del
NM_006078.3:c.211+948_211+962del NP_006069.1:n.211+948_211+962del
NM_006078.4:c.211+948_211+962del NP_006069.1:n.211+948_211+962del
NM_001379051.1:c.142+948_142+962del NP_001365980.1:n.142+948_142+962del
NM_006078.5:c.211+948_211+962del MANE Select NP_006069.1:n.211+948_211+962del
NR_166440.1:n.1387+948_1387+962del
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