Canonical Allele Identifier: CA44473235

Gene: MPV17

Linked Data

• dbSNP Id: rs981818559
• gnomAD v2: 2-27546036-C-G
• gnomAD v3: 2-27323169-C-G
• gnomAD v4: 2-27323169-C-G
• MyVariant Identifiers: chr2:g.27546036C>G (hg19) ; chr2:g.27323169C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323169C>G , CM000664.2:g.27323169C>G	GRCh38
NC_000002.11:g.27546036C>G , CM000664.1:g.27546036C>G	GRCh37
NC_000002.10:g.27399540C>G	NCBI36
NG_008075.1:g.4396G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1264G>C	ENSP00000349713.6:n.18+1264G>C
XM_005264327.2:c.-247G>C	XP_005264384.1:n.-247G>C