Canonical Allele Identifier: CA44473182

Gene: MPV17

Linked Data

• dbSNP Id: rs923190353
• gnomAD v3: 2-27323139-T-A
• gnomAD v4: 2-27323139-T-A
• MyVariant Identifiers: chr2:g.27546006T>A (hg19) ; chr2:g.27323139T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323139T>A , CM000664.2:g.27323139T>A	GRCh38
NC_000002.11:g.27546006T>A , CM000664.1:g.27546006T>A	GRCh37
NC_000002.10:g.27399510T>A	NCBI36
NG_008075.1:g.4426A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1294A>T	ENSP00000349713.6:n.18+1294A>T
XM_005264327.2:c.-217A>T	XP_005264384.1:n.-217A>T