Canonical Allele Identifier: CA1190729371
Gene: CASQ2 HGNC NCBI

Linked Data

dbSNP Id: rs1648042287
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738492G>A , CM000663.2:g.115738492G>A GRCh38
NC_000001.10:g.116281113G>A , CM000663.1:g.116281113G>A GRCh37
NC_000001.9:g.116082636G>A NCBI36
NG_008802.1:g.35314C>T , LRG_404:g.35314C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.145-157C>T ENSP00000518226.1:n.145-157C>T
ENST00000261448.6:c.421-157C>T MANE Select ENSP00000261448.5:n.421-157C>T
ENST00000261448.5:c.421-157C>T ENSP00000261448.5:n.421-157C>T
NM_001232.3:c.421-157C>T , LRG_404t1:c.421-157C>T NP_001223.2:n.421-157C>T
NM_001232.4:c.421-157C>T MANE Select NP_001223.2:n.421-157C>T
Search 100 bp 5'
Search 100 bp 3'