Canonical Allele Identifier: CA44473259
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1009739194
gnomAD v4: 2-27323184-C-A
MyVariant Identifiers: chr2:g.27546051C>A (hg19) chr2:g.27323184C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323184C>A , CM000664.2:g.27323184C>A GRCh38
NC_000002.11:g.27546051C>A , CM000664.1:g.27546051C>A GRCh37
NC_000002.10:g.27399555C>A NCBI36
NG_008075.1:g.4381G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1249G>T ENSP00000349713.6:n.18+1249G>T
XM_005264327.2:c.-262G>T XP_005264384.1:n.-262G>T
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