Canonical Allele Identifier: CA44473297

Gene: MPV17

Linked Data

• dbSNP Id: rs3217473
• gnomAD v2: 2-27546086-TGA-T
• gnomAD v3: 2-27323219-TGA-T
• gnomAD v4: 2-27323219-TGA-T
• MyVariant Identifiers: chr2:g.27546087_27546088del (hg19) ; chr2:g.27323220_27323221del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323224_27323225del , CM000664.2:g.27323224_27323225del	GRCh38
NC_000002.11:g.27546091_27546092del , CM000664.1:g.27546091_27546092del	GRCh37
NC_000002.10:g.27399595_27399596del	NCBI36
NG_008075.1:g.4344_4345del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1212_18+1213del	ENSP00000349713.6:n.18+1212_18+1213del
XM_005264327.2:c.-299_-298del	XP_005264384.1:n.-299_-298del