Canonical Allele Identifier: CA1006061771
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1648039792
gnomAD v3: 1-115738413-G-A
gnomAD v4: 1-115738413-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738413G>A , CM000663.2:g.115738413G>A GRCh38
NC_000001.10:g.116281034G>A , CM000663.1:g.116281034G>A GRCh37
NC_000001.9:g.116082557G>A NCBI36
NG_008802.1:g.35393C>T , LRG_404:g.35393C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-78C>T ENSP00000518226.1:n.145-78C>T
ENST00000261448.6:c.421-78C>T MANE Select ENSP00000261448.5:n.421-78C>T
ENST00000261448.5:c.421-78C>T ENSP00000261448.5:n.421-78C>T
NM_001232.3:c.421-78C>T , LRG_404t1:c.421-78C>T NP_001223.2:n.421-78C>T
NM_001232.4:c.421-78C>T MANE Select NP_001223.2:n.421-78C>T
Search 100 bp 5'
Search 100 bp 3'