Canonical Allele Identifier: CA531441183

Gene: MPV17

Linked Data

• dbSNP Id: rs1186714597
• gnomAD v2: 2-27546119-A-G
• gnomAD v3: 2-27323252-A-G
• gnomAD v4: 2-27323252-A-G
• MyVariant Identifiers: chr2:g.27546119A>G (hg19) ; chr2:g.27323252A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323252A>G , CM000664.2:g.27323252A>G	GRCh38
NC_000002.11:g.27546119A>G , CM000664.1:g.27546119A>G	GRCh37
NC_000002.10:g.27399623A>G	NCBI36
NG_008075.1:g.4313T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1181T>C	ENSP00000349713.6:n.18+1181T>C
XM_005264327.2:c.-330T>C	XP_005264384.1:n.-330T>C