Canonical Allele Identifier: CA2647280015
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115738117-C-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738117C>A , CM000663.2:g.115738117C>A GRCh38
NC_000001.10:g.116280738C>A , CM000663.1:g.116280738C>A GRCh37
NC_000001.9:g.116082261C>A NCBI36
NG_008802.1:g.35689G>T , LRG_404:g.35689G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.256+107G>T ENSP00000518226.1:n.256+107G>T
ENST00000261448.6:c.532+107G>T MANE Select ENSP00000261448.5:n.532+107G>T
ENST00000261448.5:c.532+107G>T ENSP00000261448.5:n.532+107G>T
NM_001232.3:c.532+107G>T , LRG_404t1:c.532+107G>T NP_001223.2:n.532+107G>T
NM_001232.4:c.532+107G>T MANE Select NP_001223.2:n.532+107G>T
Search 100 bp 5'
Search 100 bp 3'