Canonical Allele Identifier: CA531441178

Gene: MPV17

Linked Data

• dbSNP Id: rs1272456098
• gnomAD v2: 2-27546076-A-G
• gnomAD v3: 2-27323209-A-G
• gnomAD v4: 2-27323209-A-G
• MyVariant Identifiers: chr2:g.27546076A>G (hg19) ; chr2:g.27323209A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323209A>G , CM000664.2:g.27323209A>G	GRCh38
NC_000002.11:g.27546076A>G , CM000664.1:g.27546076A>G	GRCh37
NC_000002.10:g.27399580A>G	NCBI36
NG_008075.1:g.4356T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1224T>C	ENSP00000349713.6:n.18+1224T>C
XM_005264327.2:c.-287T>C	XP_005264384.1:n.-287T>C