Canonical Allele Identifier: CA767383076
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1336834690
gnomAD v4: 2-27323231-T-C
MyVariant Identifiers: chr2:g.27546098T>C (hg19) chr2:g.27323231T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323231T>C , CM000664.2:g.27323231T>C GRCh38
NC_000002.11:g.27546098T>C , CM000664.1:g.27546098T>C GRCh37
NC_000002.10:g.27399602T>C NCBI36
NG_008075.1:g.4334A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1202A>G ENSP00000349713.6:n.18+1202A>G
XM_005264327.2:c.-309A>G XP_005264384.1:n.-309A>G
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