Canonical Allele Identifier: CA29605085
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs536769594
gnomAD v3: 1-115700669-C-T
gnomAD v4: 1-115700669-C-T
MyVariant Identifiers: chr1:g.116243290C>T (hg19) chr1:g.115700669C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700669C>T , CM000663.2:g.115700669C>T GRCh38
NC_000001.10:g.116243290C>T , CM000663.1:g.116243290C>T GRCh37
NC_000001.9:g.116044813C>T NCBI36
NG_008802.1:g.73137G>A , LRG_404:g.73137G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.*1144G>A ENSP00000518226.1:n.*1144G>A
ENST00000261448.6:c.*572G>A MANE Select ENSP00000261448.5:n.*572G>A
ENST00000261448.5:c.*572G>A ENSP00000261448.5:n.*572G>A
NM_001232.3:c.*572G>A , LRG_404t1:c.*572G>A NP_001223.2:n.*572G>A
NM_001232.4:c.*572G>A MANE Select NP_001223.2:n.*572G>A
Search 100 bp 5'
Search 100 bp 3'