Canonical Allele Identifier: CA767382964

Gene: MPV17

Linked Data

• dbSNP Id: rs1361793409
• gnomAD v3: 2-27323122-T-A
• gnomAD v4: 2-27323122-T-A
• MyVariant Identifiers: chr2:g.27545989T>A (hg19) ; chr2:g.27323122T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323122T>A , CM000664.2:g.27323122T>A	GRCh38
NC_000002.11:g.27545989T>A , CM000664.1:g.27545989T>A	GRCh37
NC_000002.10:g.27399493T>A	NCBI36
NG_008075.1:g.4443A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1311A>T	ENSP00000349713.6:n.18+1311A>T
XM_005264327.2:c.-200A>T	XP_005264384.1:n.-200A>T