Canonical Allele Identifier: CA16774183
Gene: MTND2P28 HGNC NCBI
MyVariant.info:
GRCh38 chr1:g.630053C>T
GRCh37 chr1:g.565433C>T
gnomAD v2:
1:565433 C / T
gnomAD v3:
1:630053 C / T
gnomAD v4:
chr1-630053-C-T
Joint Max Group AF 0.00396471 (EAS)
Genomes Max Group AF 0.01332611 (EAS)
Exomes Max Group AF 0.00157871 (EAS)
dbSNP:
9701055
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.630053C>T , CM000663.2:g.630053C>T GRCh38
NC_000001.10:g.565433C>T , CM000663.1:g.565433C>T GRCh37
NC_000001.9:g.555296C>T NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000419394.2:n.481-43098G>A
ENST00000440196.3:n.87-1047G>A
ENST00000440200.5:n.170-21997G>A
ENST00000452176.2:n.21-1047G>A
ENST00000634337.2:n.161-21997G>A
ENST00000635509.2:n.313-28476G>A
ENST00000641296.1:n.75-1047G>A
ENST00000648019.1:n.636-21997G>A
ENST00000457540.1:n.414C>T
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