Canonical Allele Identifier: CA341766286
Gene: CASQ2 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.115701307A>C
GRCh37 chr1:g.116243928A>C
Revel Score:
ENST00000261448 (MANE Select) 0.060
ENST00000456138 0.060
ENST00000446755 0.060
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115701307A>C , CM000663.2:g.115701307A>C GRCh38
NC_000001.10:g.116243928A>C , CM000663.1:g.116243928A>C GRCh37
NC_000001.9:g.116045451A>C NCBI36
NG_008802.1:g.72499T>G , LRG_404:g.72499T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.*506T>G ENSP00000518226.1:n.*506T>G
ENST00000261448.6:c.1134T>G MANE Select ENSP00000261448.5:p.Asp378Glu
ENST00000261448.5:c.1134T>G ENSP00000261448.5:p.Asp378Glu
NM_001232.3:c.1134T>G , LRG_404t1:c.1134T>G NP_001223.2:p.Asp378Glu
NM_001232.4:c.1134T>G MANE Select NP_001223.2:p.Asp378Glu
Search 100 bp 5'
Search 100 bp 3'