Canonical Allele Identifier: CA531441170
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs1360065204
gnomAD v2: 2-27546050-C-T
gnomAD v3: 2-27323183-C-T
gnomAD v4: 2-27323183-C-T
MyVariant Identifiers: chr2:g.27546050C>T (hg19) chr2:g.27323183C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323183C>T , CM000664.2:g.27323183C>T GRCh38
NC_000002.11:g.27546050C>T , CM000664.1:g.27546050C>T GRCh37
NC_000002.10:g.27399554C>T NCBI36
NG_008075.1:g.4382G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1250G>A ENSP00000349713.6:n.18+1250G>A
XM_005264327.2:c.-261G>A XP_005264384.1:n.-261G>A
Search 100 bp 5'
Search 100 bp 3'