Canonical Allele Identifier: CA44473221
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs905551111
gnomAD v2: 2-27546031-G-C
gnomAD v3: 2-27323164-G-C
gnomAD v4: 2-27323164-G-C
MyVariant Identifiers: chr2:g.27546031G>C (hg19) chr2:g.27323164G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323164G>C , CM000664.2:g.27323164G>C GRCh38
NC_000002.11:g.27546031G>C , CM000664.1:g.27546031G>C GRCh37
NC_000002.10:g.27399535G>C NCBI36
NG_008075.1:g.4401C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1269C>G ENSP00000349713.6:n.18+1269C>G
XM_005264327.2:c.-242C>G XP_005264384.1:n.-242C>G
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