Canonical Allele Identifier: CA346205290

Gene: MPV17

Linked Data

• gnomAD v4: 2-27309906-G-A
• MyVariant Identifiers: chr2:g.27532774G>A (hg19) ; chr2:g.27309906G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309906G>A , CM000664.2:g.27309906G>A	GRCh38
NC_000002.11:g.27532774G>A , CM000664.1:g.27532774G>A	GRCh37
NC_000002.10:g.27386278G>A	NCBI36
NG_008075.1:g.17658C>T
NG_033055.1:g.3357C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.*6C>T MANE Select	ENSP00000369383.1:n.*6C>T
ENST00000233545.6:c.*6C>T	ENSP00000233545.2:n.*6C>T
ENST00000357186.10:c.*6C>T	ENSP00000349713.6:n.*6C>T
ENST00000380044.5:c.*6C>T	ENSP00000369383.1:n.*6C>T
ENST00000402310.5:c.484C>T	ENSP00000383955.1:p.Pro162Ser
ENST00000402722.5:c.*116C>T	ENSP00000386000.1:n.*116C>T
ENST00000405076.5:c.*6C>T	ENSP00000385175.1:n.*6C>T
ENST00000405983.5:c.*6C>T	ENSP00000384586.1:n.*6C>T
ENST00000415514.5:c.*338C>T	ENSP00000388043.1:n.*338C>T
ENST00000426513.6:c.*202C>T	ENSP00000403824.2:n.*202C>T
ENST00000430991.5:c.371C>T
ENST00000620797.4:n.210C>T
ENST00000621183.4:n.840C>T
NM_002437.4:c.*6C>T	NP_002428.1:n.*6C>T
XM_005264326.2:c.*6C>T	XP_005264383.1:n.*6C>T
XM_005264327.2:c.*6C>T	XP_005264384.1:n.*6C>T
XM_006712021.2:c.*6C>T	XP_006712084.1:n.*6C>T
XM_005264326.4:c.*6C>T	XP_005264383.1:n.*6C>T
XM_006712021.3:c.*6C>T	XP_006712084.1:n.*6C>T
XM_017004150.1:c.*6C>T	XP_016859639.1:n.*6C>T
XM_017004151.1:c.*6C>T	XP_016859640.1:n.*6C>T
XM_017004152.1:c.*6C>T	XP_016859641.1:n.*6C>T
XM_024452913.1:c.*6C>T	XP_024308681.1:n.*6C>T
NM_002437.5:c.*6C>T MANE Select	NP_002428.1:n.*6C>T