Canonical Allele Identifier: CA525428155
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1180225779
gnomAD v2: 1-116281026-G-T
gnomAD v3: 1-115738405-G-T
gnomAD v4: 1-115738405-G-T
MyVariant Identifiers: chr1:g.116281026G>T (hg19) chr1:g.115738405G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738405G>T , CM000663.2:g.115738405G>T GRCh38
NC_000001.10:g.116281026G>T , CM000663.1:g.116281026G>T GRCh37
NC_000001.9:g.116082549G>T NCBI36
NG_008802.1:g.35401C>A , LRG_404:g.35401C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-70C>A ENSP00000518226.1:n.145-70C>A
ENST00000261448.6:c.421-70C>A MANE Select ENSP00000261448.5:n.421-70C>A
ENST00000261448.5:c.421-70C>A ENSP00000261448.5:n.421-70C>A
NM_001232.3:c.421-70C>A , LRG_404t1:c.421-70C>A NP_001223.2:n.421-70C>A
NM_001232.4:c.421-70C>A MANE Select NP_001223.2:n.421-70C>A
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