Canonical Allele Identifier: CA420178477
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116311121C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768500C>A , CM000663.2:g.115768500C>A GRCh38
NC_000001.10:g.116311121C>A , CM000663.1:g.116311121C>A GRCh37
NC_000001.9:g.116112644C>A NCBI36
NG_008802.1:g.5306G>T , LRG_404:g.5306G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-12G>T ENSP00000518226.1:n.-223-12G>T
ENST00000261448.6:c.42G>T MANE Select ENSP00000261448.5:p.Leu14=
ENST00000261448.5:c.42G>T ENSP00000261448.5:p.Leu14=
NM_001232.3:c.42G>T , LRG_404t1:c.42G>T NP_001223.2:p.Leu14=
NM_001232.4:c.42G>T MANE Select NP_001223.2:p.Leu14=
Search 100 bp 5'
Search 100 bp 3'