Canonical Allele Identifier: CA44473277

Gene: MPV17

Linked Data

• dbSNP Id: rs1000989353
• gnomAD v3: 2-27323198-C-T
• gnomAD v4: 2-27323198-C-T
• MyVariant Identifiers: chr2:g.27546065C>T (hg19) ; chr2:g.27323198C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323198C>T , CM000664.2:g.27323198C>T	GRCh38
NC_000002.11:g.27546065C>T , CM000664.1:g.27546065C>T	GRCh37
NC_000002.10:g.27399569C>T	NCBI36
NG_008075.1:g.4367G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1235G>A	ENSP00000349713.6:n.18+1235G>A
XM_005264327.2:c.-276G>A	XP_005264384.1:n.-276G>A