Canonical Allele Identifier: CA44473300

Gene: MPV17

Linked Data

• dbSNP Id: rs1006447509
• MyVariant Identifiers: chr2:g.27546092A>C (hg19) ; chr2:g.27323225A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323225A>C , CM000664.2:g.27323225A>C	GRCh38
NC_000002.11:g.27546092A>C , CM000664.1:g.27546092A>C	GRCh37
NC_000002.10:g.27399596A>C	NCBI36
NG_008075.1:g.4340T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000357186.10:c.18+1208T>G	ENSP00000349713.6:n.18+1208T>G
XM_005264327.2:c.-303T>G	XP_005264384.1:n.-303T>G