Canonical Allele Identifier: CA44473250

Gene: MPV17

Linked Data

• dbSNP Id: rs918306214
• gnomAD v4: 2-27323174-C-T
• MyVariant Identifiers: chr2:g.27546041C>T (hg19) ; chr2:g.27323174C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323174C>T , CM000664.2:g.27323174C>T	GRCh38
NC_000002.11:g.27546041C>T , CM000664.1:g.27546041C>T	GRCh37
NC_000002.10:g.27399545C>T	NCBI36
NG_008075.1:g.4391G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1259G>A	ENSP00000349713.6:n.18+1259G>A
XM_005264327.2:c.-252G>A	XP_005264384.1:n.-252G>A