Canonical Allele Identifier: CA29603713
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs751841438
gnomAD v2: 1-116281020-C-T
gnomAD v3: 1-115738399-C-T
gnomAD v4: 1-115738399-C-T
MyVariant Identifiers: chr1:g.116281020C>T (hg19) chr1:g.116281020_116281022delinsTAG (hg19) chr1:g.115738399C>T (hg38) chr1:g.115738399_115738401delinsTAG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738399C>T , CM000663.2:g.115738399C>T GRCh38
NC_000001.10:g.116281020C>T , CM000663.1:g.116281020C>T GRCh37
NC_000001.9:g.116082543C>T NCBI36
NG_008802.1:g.35407G>A , LRG_404:g.35407G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-64G>A ENSP00000518226.1:n.145-64G>A
ENST00000261448.6:c.421-64G>A MANE Select ENSP00000261448.5:n.421-64G>A
ENST00000261448.5:c.421-64G>A ENSP00000261448.5:n.421-64G>A
NM_001232.3:c.421-64G>A , LRG_404t1:c.421-64G>A NP_001223.2:n.421-64G>A
NM_001232.4:c.421-64G>A MANE Select NP_001223.2:n.421-64G>A
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