Canonical Allele Identifier: CA1023998
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs780579529
ExAC: 1:116311060 C / G
gnomAD v2: 1-116311060-C-G
gnomAD v4: 1-115768439-C-G
MyVariant Identifiers: chr1:g.116311060C>G (hg19) chr1:g.115768439C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768439C>G , CM000663.2:g.115768439C>G GRCh38
NC_000001.10:g.116311060C>G , CM000663.1:g.116311060C>G GRCh37
NC_000001.9:g.116112583C>G NCBI36
NG_008802.1:g.5367G>C , LRG_404:g.5367G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-174G>C ENSP00000518226.1:n.-174G>C
ENST00000261448.6:c.103G>C MANE Select ENSP00000261448.5:p.Val35Leu
ENST00000261448.5:c.103G>C ENSP00000261448.5:p.Val35Leu
NM_001232.3:c.103G>C , LRG_404t1:c.103G>C NP_001223.2:p.Val35Leu
NM_001232.4:c.103G>C MANE Select NP_001223.2:p.Val35Leu
Search 100 bp 5'
Search 100 bp 3'