Canonical Allele Identifier: CA44473181
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs545021877
gnomAD v4: 2-27323138-A-G
MyVariant Identifiers: chr2:g.27546005A>G (hg19) chr2:g.27323138A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323138A>G , CM000664.2:g.27323138A>G GRCh38
NC_000002.11:g.27546005A>G , CM000664.1:g.27546005A>G GRCh37
NC_000002.10:g.27399509A>G NCBI36
NG_008075.1:g.4427T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1295T>C ENSP00000349713.6:n.18+1295T>C
XM_005264327.2:c.-216T>C XP_005264384.1:n.-216T>C
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