Canonical Allele Identifier: CA44473262
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs983856583
MyVariant Identifiers: chr2:g.27323185C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323185C>T , CM000664.2:g.27323185C>T GRCh38
NC_000002.11:g.27546052C>T , CM000664.1:g.27546052C>T GRCh37
NC_000002.10:g.27399556C>T NCBI36
NG_008075.1:g.4380G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1248G>A ENSP00000349713.6:n.18+1248G>A
XM_005264327.2:c.-263G>A XP_005264384.1:n.-263G>A
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