Canonical Allele Identifier: CA44473167
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs373058214
gnomAD v3: 2-27323128-C-T
gnomAD v4: 2-27323128-C-T
MyVariant Identifiers: chr2:g.27545995C>T (hg19) chr2:g.27323128C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323128C>T , CM000664.2:g.27323128C>T GRCh38
NC_000002.11:g.27545995C>T , CM000664.1:g.27545995C>T GRCh37
NC_000002.10:g.27399499C>T NCBI36
NG_008075.1:g.4437G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1305G>A ENSP00000349713.6:n.18+1305G>A
XM_005264327.2:c.-206G>A XP_005264384.1:n.-206G>A
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