Canonical Allele Identifier: CA44473303

Gene: MPV17

Linked Data

• dbSNP Id: rs902539681
• gnomAD v3: 2-27323227-C-T
• gnomAD v4: 2-27323227-C-T
• MyVariant Identifiers: chr2:g.27546094C>T (hg19) ; chr2:g.27323227C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323227C>T , CM000664.2:g.27323227C>T	GRCh38
NC_000002.11:g.27546094C>T , CM000664.1:g.27546094C>T	GRCh37
NC_000002.10:g.27399598C>T	NCBI36
NG_008075.1:g.4338G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1206G>A	ENSP00000349713.6:n.18+1206G>A
XM_005264327.2:c.-305G>A	XP_005264384.1:n.-305G>A