Canonical Allele Identifier: CA214829

Gene: CHCHD2

Linked Data

• ClinVar Variation Id: 218884
• ClinVar RCV Id: RCV000203226
• dbSNP Id: rs750014782
• ExAC: 7:56171914 C / T
• gnomAD v2: 7-56171914-C-T
• gnomAD v4: 7-56104221-C-T
• MyVariant Identifiers: chr7:g.56171914C>T (hg19) ; chr7:g.56104221C>T (hg38)
• PubMed: PMID:25662902 ; PMID:26067113

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.56104221C>T , CM000669.2:g.56104221C>T	GRCh38
NC_000007.13:g.56171914C>T , CM000669.1:g.56171914C>T	GRCh37
NC_000007.12:g.56139408C>T	NCBI36
NG_046734.1:g.7410G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000395422.4:c.300+5G>A MANE Select	ENSP00000378812.3:n.300+5G>A
ENST00000395422.3:c.300+5G>A	ENSP00000378812.3:n.300+5G>A
ENST00000473095.1:n.318+5G>A
NM_016139.2:c.300+5G>A	NP_057223.1:n.300+5G>A
NM_001320327.1:c.300+5G>A	NP_001307256.1:n.300+5G>A
NM_016139.3:c.300+5G>A	NP_057223.1:n.300+5G>A
NM_016139.4:c.300+5G>A MANE Select	NP_057223.1:n.300+5G>A
NM_001320327.2:c.300+5G>A	NP_001307256.1:n.300+5G>A