Canonical Allele Identifier: CA525631273
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1261216280
gnomAD v2: 1-116311181-C-A
gnomAD v4: 1-115768560-C-A
MyVariant Identifiers: chr1:g.116311181C>A (hg19) chr1:g.115768560C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768560C>A , CM000663.2:g.115768560C>A GRCh38
NC_000001.10:g.116311181C>A , CM000663.1:g.116311181C>A GRCh37
NC_000001.9:g.116112704C>A NCBI36
NG_008802.1:g.5246G>T , LRG_404:g.5246G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-223-72G>T ENSP00000518226.1:n.-223-72G>T
ENST00000261448.6:c.-19G>T MANE Select ENSP00000261448.5:n.-19G>T
ENST00000261448.5:c.-19G>T ENSP00000261448.5:n.-19G>T
NM_001232.3:c.-19G>T , LRG_404t1:c.-19G>T NP_001223.2:n.-19G>T
NM_001232.4:c.-19G>T MANE Select NP_001223.2:n.-19G>T
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