Canonical Allele Identifier: CA531441158

Gene: MPV17

Linked Data

• dbSNP Id: rs1427559229
• gnomAD v2: 2-27546010-G-T
• gnomAD v3: 2-27323143-G-T
• gnomAD v4: 2-27323143-G-T
• MyVariant Identifiers: chr2:g.27546010G>T (hg19) ; chr2:g.27323143G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323143G>T , CM000664.2:g.27323143G>T	GRCh38
NC_000002.11:g.27546010G>T , CM000664.1:g.27546010G>T	GRCh37
NC_000002.10:g.27399514G>T	NCBI36
NG_008075.1:g.4422C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1290C>A	ENSP00000349713.6:n.18+1290C>A
XM_005264327.2:c.-221C>A	XP_005264384.1:n.-221C>A