Canonical Allele Identifier: CA531441152

Gene: MPV17

Linked Data

• dbSNP Id: rs1468519776
• gnomAD v2: 2-27545950-G-A
• gnomAD v3: 2-27323083-G-A
• gnomAD v4: 2-27323083-G-A
• MyVariant Identifiers: chr2:g.27545950G>A (hg19) ; chr2:g.27323083G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27323083G>A , CM000664.2:g.27323083G>A	GRCh38
NC_000002.11:g.27545950G>A , CM000664.1:g.27545950G>A	GRCh37
NC_000002.10:g.27399454G>A	NCBI36
NG_008075.1:g.4482C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.-37C>T MANE Select	ENSP00000369383.1:n.-37C>T
ENST00000357186.10:c.18+1350C>T	ENSP00000349713.6:n.18+1350C>T
ENST00000380044.5:c.-37C>T	ENSP00000369383.1:n.-37C>T
ENST00000399052.8:c.-37C>T	ENSP00000382006.4:n.-37C>T
ENST00000405076.5:c.-37C>T	ENSP00000385175.1:n.-37C>T
ENST00000426513.6:c.-37C>T	ENSP00000403824.2:n.-37C>T
ENST00000486898.1:n.15C>T
ENST00000621183.4:n.20C>T
ENST00000621470.4:n.15C>T
NM_002437.4:c.-37C>T	NP_002428.1:n.-37C>T
XM_005264327.2:c.-161C>T	XP_005264384.1:n.-161C>T
XM_006712021.2:c.-242C>T	XP_006712084.1:n.-242C>T
XM_006712021.3:c.-242C>T	XP_006712084.1:n.-242C>T
XM_017004150.1:c.-3289C>T	XP_016859639.1:n.-3289C>T
NM_002437.5:c.-37C>T MANE Select	NP_002428.1:n.-37C>T