Canonical Allele Identifier: CA44473294
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs562868297
gnomAD v2: 2-27546078-C-T
gnomAD v3: 2-27323211-C-T
gnomAD v4: 2-27323211-C-T
MyVariant Identifiers: chr2:g.27546078C>T (hg19) chr2:g.27323211C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323211C>T , CM000664.2:g.27323211C>T GRCh38
NC_000002.11:g.27546078C>T , CM000664.1:g.27546078C>T GRCh37
NC_000002.10:g.27399582C>T NCBI36
NG_008075.1:g.4354G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1222G>A ENSP00000349713.6:n.18+1222G>A
XM_005264327.2:c.-289G>A XP_005264384.1:n.-289G>A
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