Canonical Allele Identifier: CA420178481
Gene: CASQ2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3009776
ClinVar RCV Id: RCV003864887
MyVariant Identifiers: chr1:g.116311130A>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768509A>G , CM000663.2:g.115768509A>G GRCh38
NC_000001.10:g.116311130A>G , CM000663.1:g.116311130A>G GRCh37
NC_000001.9:g.116112653A>G NCBI36
NG_008802.1:g.5297T>C , LRG_404:g.5297T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-21T>C ENSP00000518226.1:n.-223-21T>C
ENST00000261448.6:c.33T>C MANE Select ENSP00000261448.5:p.Ile11=
ENST00000261448.5:c.33T>C ENSP00000261448.5:p.Ile11=
NM_001232.3:c.33T>C , LRG_404t1:c.33T>C NP_001223.2:p.Ile11=
NM_001232.4:c.33T>C MANE Select NP_001223.2:p.Ile11=
Search 100 bp 5'
Search 100 bp 3'