Canonical Allele Identifier: CA44473225
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs970758811
gnomAD v2: 2-27546032-T-C
gnomAD v3: 2-27323165-T-C
gnomAD v4: 2-27323165-T-C
MyVariant Identifiers: chr2:g.27546032T>C (hg19) chr2:g.27323165T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323165T>C , CM000664.2:g.27323165T>C GRCh38
NC_000002.11:g.27546032T>C , CM000664.1:g.27546032T>C GRCh37
NC_000002.10:g.27399536T>C NCBI36
NG_008075.1:g.4400A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1268A>G ENSP00000349713.6:n.18+1268A>G
XM_005264327.2:c.-243A>G XP_005264384.1:n.-243A>G
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