Canonical Allele Identifier: CA44473281

Gene: MPV17

Linked Data

• dbSNP Id: rs576520006
• gnomAD v2: 2-27546068-A-C
• gnomAD v3: 2-27323201-A-C
• gnomAD v4: 2-27323201-A-C
• MyVariant Identifiers: chr2:g.27546068A>C (hg19) ; chr2:g.27323201A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323201A>C , CM000664.2:g.27323201A>C	GRCh38
NC_000002.11:g.27546068A>C , CM000664.1:g.27546068A>C	GRCh37
NC_000002.10:g.27399572A>C	NCBI36
NG_008075.1:g.4364T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1232T>G	ENSP00000349713.6:n.18+1232T>G
XM_005264327.2:c.-279T>G	XP_005264384.1:n.-279T>G