Canonical Allele Identifier: CA419895531
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115738333-T-G
MyVariant Identifiers: chr1:g.116280954T>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738333T>G , CM000663.2:g.115738333T>G GRCh38
NC_000001.10:g.116280954T>G , CM000663.1:g.116280954T>G GRCh37
NC_000001.9:g.116082477T>G NCBI36
NG_008802.1:g.35473A>C , LRG_404:g.35473A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.147A>C ENSP00000518226.1:p.Leu49=
ENST00000261448.6:c.423A>C MANE Select ENSP00000261448.5:p.Leu141=
ENST00000261448.5:c.423A>C ENSP00000261448.5:p.Leu141=
NM_001232.3:c.423A>C , LRG_404t1:c.423A>C NP_001223.2:p.Leu141=
NM_001232.4:c.423A>C MANE Select NP_001223.2:p.Leu141=
Search 100 bp 5'
Search 100 bp 3'