Canonical Allele Identifier: CA767383062

Gene: MPV17

Linked Data

• dbSNP Id: rs562868297
• gnomAD v3: 2-27323211-C-G
• gnomAD v4: 2-27323211-C-G
• MyVariant Identifiers: chr2:g.27546078C>G (hg19) ; chr2:g.27323211C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323211C>G , CM000664.2:g.27323211C>G	GRCh38
NC_000002.11:g.27546078C>G , CM000664.1:g.27546078C>G	GRCh37
NC_000002.10:g.27399582C>G	NCBI36
NG_008075.1:g.4354G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1222G>C	ENSP00000349713.6:n.18+1222G>C
XM_005264327.2:c.-289G>C	XP_005264384.1:n.-289G>C