Canonical Allele Identifier: CA2647256735
Gene: CASQ2 HGNC NCBI

Linked Data

gnomAD v4: 1-115700726-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115700726G>A , CM000663.2:g.115700726G>A GRCh38
NC_000001.10:g.116243347G>A , CM000663.1:g.116243347G>A GRCh37
NC_000001.9:g.116044870G>A NCBI36
NG_008802.1:g.73080C>T , LRG_404:g.73080C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*1087C>T ENSP00000518226.1:n.*1087C>T
ENST00000261448.6:c.*515C>T MANE Select ENSP00000261448.5:n.*515C>T
ENST00000261448.5:c.*515C>T ENSP00000261448.5:n.*515C>T
NM_001232.3:c.*515C>T , LRG_404t1:c.*515C>T NP_001223.2:n.*515C>T
NM_001232.4:c.*515C>T MANE Select NP_001223.2:n.*515C>T
Search 100 bp 5'
Search 100 bp 3'