Canonical Allele Identifier: CA767382972
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1257124605
gnomAD v4: 2-27323135-C-T
MyVariant Identifiers: chr2:g.27546002C>T (hg19) chr2:g.27323135C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323135C>T , CM000664.2:g.27323135C>T GRCh38
NC_000002.11:g.27546002C>T , CM000664.1:g.27546002C>T GRCh37
NC_000002.10:g.27399506C>T NCBI36
NG_008075.1:g.4430G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1298G>A ENSP00000349713.6:n.18+1298G>A
XM_005264327.2:c.-213G>A XP_005264384.1:n.-213G>A
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