Canonical Allele Identifier: CA531441172

Gene: MPV17

Linked Data

• dbSNP Id: rs1214233270
• gnomAD v2: 2-27546058-G-C
• MyVariant Identifiers: chr2:g.27546058G>C (hg19) ; chr2:g.27323191G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323191G>C , CM000664.2:g.27323191G>C	GRCh38
NC_000002.11:g.27546058G>C , CM000664.1:g.27546058G>C	GRCh37
NC_000002.10:g.27399562G>C	NCBI36
NG_008075.1:g.4374C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1242C>G	ENSP00000349713.6:n.18+1242C>G
XM_005264327.2:c.-269C>G	XP_005264384.1:n.-269C>G