Canonical Allele Identifier: CA1023887
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs527900203
ExAC: 1:116280820 C / T
gnomAD v2: 1-116280820-C-T
gnomAD v3: 1-115738199-C-T
gnomAD v4: 1-115738199-C-T
MyVariant Identifiers: chr1:g.116280820C>T (hg19) chr1:g.115738199C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738199C>T , CM000663.2:g.115738199C>T GRCh38
NC_000001.10:g.116280820C>T , CM000663.1:g.116280820C>T GRCh37
NC_000001.9:g.116082343C>T NCBI36
NG_008802.1:g.35607G>A , LRG_404:g.35607G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+25G>A ENSP00000518226.1:n.256+25G>A
ENST00000261448.6:c.532+25G>A MANE Select ENSP00000261448.5:n.532+25G>A
ENST00000261448.5:c.532+25G>A ENSP00000261448.5:n.532+25G>A
NM_001232.3:c.532+25G>A , LRG_404t1:c.532+25G>A NP_001223.2:n.532+25G>A
NM_001232.4:c.532+25G>A MANE Select NP_001223.2:n.532+25G>A
Search 100 bp 5'
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