Canonical Allele Identifier: CA525430105
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1365624475
gnomAD v2: 1-116247757-G-A
gnomAD v3: 1-115705136-G-A
gnomAD v4: 1-115705136-G-A
MyVariant Identifiers: chr1:g.116247757G>A (hg19) chr1:g.115705136G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115705136G>A , CM000663.2:g.115705136G>A GRCh38
NC_000001.10:g.116247757G>A , CM000663.1:g.116247757G>A GRCh37
NC_000001.9:g.116049280G>A NCBI36
NG_008802.1:g.68670C>T , LRG_404:g.68670C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*311+56C>T ENSP00000518226.1:n.*311+56C>T
ENST00000261448.6:c.939+56C>T MANE Select ENSP00000261448.5:n.939+56C>T
ENST00000261448.5:c.939+56C>T ENSP00000261448.5:n.939+56C>T
NM_001232.3:c.939+56C>T , LRG_404t1:c.939+56C>T NP_001223.2:n.939+56C>T
NM_001232.4:c.939+56C>T MANE Select NP_001223.2:n.939+56C>T
Search 100 bp 5'
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