Canonical Allele Identifier: CA767382961

Gene: MPV17

Linked Data

• dbSNP Id: rs1159039147
• gnomAD v4: 2-27323110-C-A
• MyVariant Identifiers: chr2:g.27545977C>A (hg19) ; chr2:g.27323110C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323110C>A , CM000664.2:g.27323110C>A	GRCh38
NC_000002.11:g.27545977C>A , CM000664.1:g.27545977C>A	GRCh37
NC_000002.10:g.27399481C>A	NCBI36
NG_008075.1:g.4455G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1323G>T	ENSP00000349713.6:n.18+1323G>T
XM_005264327.2:c.-188G>T	XP_005264384.1:n.-188G>T