Canonical Allele Identifier: CA278758
Gene: CHCHD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 218882
ClinVar RCV Id: RCV000203229 RCV003556254
dbSNP Id: rs864309650
MyVariant Identifiers: chr7:g.56172037G>A (hg19) chr7:g.56104344G>A (hg38)
PubMed: PMID:25662902 PMID:26067113
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Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.56104344G>A , CM000669.2:g.56104344G>A GRCh38
NC_000007.13:g.56172037G>A , CM000669.1:g.56172037G>A GRCh37
NC_000007.12:g.56139531G>A NCBI36
NG_046734.1:g.7287C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000395422.4:c.182C>T MANE Select ENSP00000378812.3:p.Thr61Ile
ENST00000395422.3:c.182C>T ENSP00000378812.3:p.Thr61Ile
ENST00000473095.1:n.200C>T
NM_016139.2:c.182C>T NP_057223.1:p.Thr61Ile
NM_001320327.1:c.182C>T NP_001307256.1:p.Thr61Ile
NM_016139.3:c.182C>T NP_057223.1:p.Thr61Ile
NM_016139.4:c.182C>T MANE Select NP_057223.1:p.Thr61Ile
NM_001320327.2:c.182C>T NP_001307256.1:p.Thr61Ile
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