Canonical Allele Identifier: CA249924
Gene: TUBA3E HGNC NCBI
MZT2B HGNC NCBI

Linked Data

ClinVar Variation Id: 183299
ClinVar RCV Id: RCV000162120
dbSNP Id: rs730882212
ExAC: 2:130951772 G / A
gnomAD v2: 2-130951772-G-A
gnomAD v3: 2-130194199-G-A
gnomAD v4: 2-130194199-G-A
MyVariant Identifiers: chr2:g.130951772G>A (hg19) chr2:g.130951772_130951773delinsAC (hg19) chr2:g.130194199G>A (hg38) chr2:g.130194199_130194200delinsAC (hg38)
PubMed: PMID:25558065
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.130194199G>A , CM000664.2:g.130194199G>A GRCh38
NC_000002.11:g.130951772G>A , CM000664.1:g.130951772G>A GRCh37
NC_000002.10:g.130668242G>A NCBI36
NG_051288.1:g.9263C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000312988.9:c.643C>T (TUBA3E) MANE Select ENSP00000318197.7:p.Arg215Cys
ENST00000312988.8:c.643C>T (TUBA3E) ENSP00000318197.7:p.Arg215Cys
NM_207312.2:c.643C>T (TUBA3E) NP_997195.1:p.Arg215Cys
XM_011511889.1:c.419-8126G>A (MZT2B) XP_011510191.1:n.419-8126G>A
NM_207312.3:c.643C>T (TUBA3E) MANE Select NP_997195.2:p.Arg215Cys
Search 100 bp 5'
Search 100 bp 3'