Canonical Allele Identifier: CA341767311
Gene: CASQ2 HGNC NCBI

Linked Data

COSMIC: COSM4333426
MyVariant Identifiers: chr1:g.116311087G>A (hg19) chr1:g.115768466G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115768466G>A , CM000663.2:g.115768466G>A GRCh38
NC_000001.10:g.116311087G>A , CM000663.1:g.116311087G>A GRCh37
NC_000001.9:g.116112610G>A NCBI36
NG_008802.1:g.5340C>T , LRG_404:g.5340C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000488931.2:c.-201C>T ENSP00000518226.1:n.-201C>T
ENST00000261448.6:c.76C>T MANE Select ENSP00000261448.5:p.Pro26Ser
ENST00000261448.5:c.76C>T ENSP00000261448.5:p.Pro26Ser
NM_001232.3:c.76C>T , LRG_404t1:c.76C>T NP_001223.2:p.Pro26Ser
NM_001232.4:c.76C>T MANE Select NP_001223.2:p.Pro26Ser
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Search 100 bp 3'