Canonical Allele Identifier: CA2696652107
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs2101083878
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115731163C>T , CM000663.2:g.115731163C>T GRCh38
NC_000001.10:g.116273784C>T , CM000663.1:g.116273784C>T GRCh37
NC_000001.9:g.116075307C>T NCBI36
NG_008802.1:g.42643G>A , LRG_404:g.42643G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.425+951G>A ENSP00000518226.1:n.425+951G>A
ENST00000261448.6:c.606+1738G>A MANE Select ENSP00000261448.5:n.606+1738G>A
ENST00000261448.5:c.606+1738G>A ENSP00000261448.5:n.606+1738G>A
ENST00000488931.1:n.122+951G>A
NM_001232.3:c.606+1738G>A , LRG_404t1:c.606+1738G>A NP_001223.2:n.606+1738G>A
NM_001232.4:c.606+1738G>A MANE Select NP_001223.2:n.606+1738G>A
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