Canonical Allele Identifier: CA885947978
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1219468288
gnomAD v3: 1-115731254-C-A
gnomAD v4: 1-115731254-C-A
MyVariant Identifiers: chr1:g.116273875C>A (hg19) chr1:g.115731254C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731254C>A , CM000663.2:g.115731254C>A GRCh38
NC_000001.10:g.116273875C>A , CM000663.1:g.116273875C>A GRCh37
NC_000001.9:g.116075398C>A NCBI36
NG_008802.1:g.42552G>T , LRG_404:g.42552G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.425+860G>T ENSP00000518226.1:n.425+860G>T
ENST00000261448.6:c.606+1647G>T MANE Select ENSP00000261448.5:n.606+1647G>T
ENST00000261448.5:c.606+1647G>T ENSP00000261448.5:n.606+1647G>T
ENST00000488931.1:n.122+860G>T
NM_001232.3:c.606+1647G>T , LRG_404t1:c.606+1647G>T NP_001223.2:n.606+1647G>T
NM_001232.4:c.606+1647G>T MANE Select NP_001223.2:n.606+1647G>T
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