Canonical Allele Identifier: CA44473273

Gene: MPV17

Linked Data

• dbSNP Id: rs903950756
• gnomAD v3: 2-27323194-CG-C
• gnomAD v4: 2-27323194-CG-C
• MyVariant Identifiers: chr2:g.27546062del (hg19) ; chr2:g.27323195del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323196del , CM000664.2:g.27323196del	GRCh38
NC_000002.11:g.27546063del , CM000664.1:g.27546063del	GRCh37
NC_000002.10:g.27399567del	NCBI36
NG_008075.1:g.4370del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1238del	ENSP00000349713.6:n.18+1238del
XM_005264327.2:c.-273del	XP_005264384.1:n.-273del