Canonical Allele Identifier: CA531441167

Gene: MPV17

Linked Data

• dbSNP Id: rs1328012427
• gnomAD v2: 2-27546038-G-A
• gnomAD v3: 2-27323171-G-A
• gnomAD v4: 2-27323171-G-A
• MyVariant Identifiers: chr2:g.27546038G>A (hg19) ; chr2:g.27323171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323171G>A , CM000664.2:g.27323171G>A	GRCh38
NC_000002.11:g.27546038G>A , CM000664.1:g.27546038G>A	GRCh37
NC_000002.10:g.27399542G>A	NCBI36
NG_008075.1:g.4394C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1262C>T	ENSP00000349713.6:n.18+1262C>T
XM_005264327.2:c.-249C>T	XP_005264384.1:n.-249C>T