Canonical Allele Identifier: CA1006058550
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1647773214
gnomAD v3: 1-115731252-C-T
gnomAD v4: 1-115731252-C-T
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731252C>T , CM000663.2:g.115731252C>T GRCh38
NC_000001.10:g.116273873C>T , CM000663.1:g.116273873C>T GRCh37
NC_000001.9:g.116075396C>T NCBI36
NG_008802.1:g.42554G>A , LRG_404:g.42554G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+862G>A ENSP00000518226.1:n.425+862G>A
ENST00000261448.6:c.606+1649G>A MANE Select ENSP00000261448.5:n.606+1649G>A
ENST00000261448.5:c.606+1649G>A ENSP00000261448.5:n.606+1649G>A
ENST00000488931.1:n.122+862G>A
NM_001232.3:c.606+1649G>A , LRG_404t1:c.606+1649G>A NP_001223.2:n.606+1649G>A
NM_001232.4:c.606+1649G>A MANE Select NP_001223.2:n.606+1649G>A
Search 100 bp 5'
Search 100 bp 3'