Canonical Allele Identifier: CA44473307
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs909074960
MyVariant Identifiers: chr2:g.27546109A>T (hg19) chr2:g.27323242A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323242A>T , CM000664.2:g.27323242A>T GRCh38
NC_000002.11:g.27546109A>T , CM000664.1:g.27546109A>T GRCh37
NC_000002.10:g.27399613A>T NCBI36
NG_008075.1:g.4323T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1191T>A ENSP00000349713.6:n.18+1191T>A
XM_005264327.2:c.-320T>A XP_005264384.1:n.-320T>A
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