Canonical Allele Identifier: CA44473299
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs190985336
gnomAD v2: 2-27546091-G-C
gnomAD v3: 2-27323224-G-C
gnomAD v4: 2-27323224-G-C
MyVariant Identifiers: chr2:g.27546091G>C (hg19) chr2:g.27323224G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323224G>C , CM000664.2:g.27323224G>C GRCh38
NC_000002.11:g.27546091G>C , CM000664.1:g.27546091G>C GRCh37
NC_000002.10:g.27399595G>C NCBI36
NG_008075.1:g.4341C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1209C>G ENSP00000349713.6:n.18+1209C>G
XM_005264327.2:c.-302C>G XP_005264384.1:n.-302C>G
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