Canonical Allele Identifier: CA44473217
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs572351759
gnomAD v2: 2-27546029-G-C
gnomAD v3: 2-27323162-G-C
gnomAD v4: 2-27323162-G-C
MyVariant Identifiers: chr2:g.27546029G>C (hg19) chr2:g.27323162G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323162G>C , CM000664.2:g.27323162G>C GRCh38
NC_000002.11:g.27546029G>C , CM000664.1:g.27546029G>C GRCh37
NC_000002.10:g.27399533G>C NCBI36
NG_008075.1:g.4403C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1271C>G ENSP00000349713.6:n.18+1271C>G
XM_005264327.2:c.-240C>G XP_005264384.1:n.-240C>G
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