Canonical Allele Identifier: CA44473168
Gene: MPV17 HGNC NCBI

Linked Data

dbSNP Id: rs556165748
gnomAD v2: 2-27545997-T-C
gnomAD v3: 2-27323130-T-C
gnomAD v4: 2-27323130-T-C
MyVariant Identifiers: chr2:g.27545997T>C (hg19) chr2:g.27323130T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27323130T>C , CM000664.2:g.27323130T>C GRCh38
NC_000002.11:g.27545997T>C , CM000664.1:g.27545997T>C GRCh37
NC_000002.10:g.27399501T>C NCBI36
NG_008075.1:g.4435A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000357186.10:c.18+1303A>G ENSP00000349713.6:n.18+1303A>G
XM_005264327.2:c.-208A>G XP_005264384.1:n.-208A>G
Search 100 bp 5'
Search 100 bp 3'