Canonical Allele Identifier: CA341765230
Gene: CASQ2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr1:g.116287452G>T (hg19) chr1:g.115744831G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115744831G>T , CM000663.2:g.115744831G>T GRCh38
NC_000001.10:g.116287452G>T , CM000663.1:g.116287452G>T GRCh37
NC_000001.9:g.116088975G>T NCBI36
NG_008802.1:g.28975C>A , LRG_404:g.28975C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000488931.2:c.40C>A ENSP00000518226.1:p.Leu14Met
ENST00000261448.6:c.316C>A MANE Select ENSP00000261448.5:p.Leu106Met
ENST00000261448.5:c.316C>A ENSP00000261448.5:p.Leu106Met
NM_001232.3:c.316C>A , LRG_404t1:c.316C>A NP_001223.2:p.Leu106Met
NM_001232.4:c.316C>A MANE Select NP_001223.2:p.Leu106Met
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Search 100 bp 3'