Canonical Allele Identifier: CA531441162
Gene: MPV17 HGNC NCBI

Linked Data

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

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

Transcript Alleles

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