Canonical Allele Identifier: CA1575607

Gene: MPV17

Linked Data

• dbSNP Id: rs750631414
• ExAC: 2:27535513 C / G
• gnomAD v2: 2-27535513-C-G
• gnomAD v4: 2-27312646-C-G
• MyVariant Identifiers: chr2:g.27535513C>G (hg19) ; chr2:g.27312646C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312646C>G , CM000664.2:g.27312646C>G	GRCh38
NC_000002.11:g.27535513C>G , CM000664.1:g.27535513C>G	GRCh37
NC_000002.10:g.27389017C>G	NCBI36
NG_008075.1:g.14919G>C
NG_033055.1:g.618G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.279+34G>C MANE Select	ENSP00000369383.1:n.279+34G>C
ENST00000233545.6:c.279+34G>C	ENSP00000233545.2:n.279+34G>C
ENST00000357186.10:c.111+34G>C	ENSP00000349713.6:n.111+34G>C
ENST00000380044.5:c.279+34G>C	ENSP00000369383.1:n.279+34G>C
ENST00000402310.5:c.279+34G>C	ENSP00000383955.1:n.279+34G>C
ENST00000402722.5:c.244+34G>C	ENSP00000386000.1:n.244+34G>C
ENST00000403262.6:c.279+34G>C	ENSP00000385671.1:n.279+34G>C
ENST00000405076.5:c.186+348G>C	ENSP00000385175.1:n.186+348G>C
ENST00000405983.5:c.324+34G>C	ENSP00000384586.1:n.324+34G>C
ENST00000415514.5:c.*80+34G>C	ENSP00000388043.1:n.*80+34G>C
ENST00000426513.6:c.244+34G>C	ENSP00000403824.2:n.244+34G>C
ENST00000428910.5:c.201+34G>C	ENSP00000405235.1:n.201+34G>C
ENST00000430991.5:c.209+34G>C
ENST00000475085.1:n.307+34G>C
ENST00000616446.1:n.256+34G>C
ENST00000616707.1:n.742G>C
ENST00000617583.4:n.305+34G>C
ENST00000621183.4:n.335+34G>C
ENST00000621470.4:n.295+34G>C
ENST00000622003.4:n.452+34G>C
NM_002437.4:c.279+34G>C	NP_002428.1:n.279+34G>C
XM_005264326.2:c.279+34G>C	XP_005264383.1:n.279+34G>C
XM_005264327.2:c.120+34G>C	XP_005264384.1:n.120+34G>C
XM_006712021.2:c.231+34G>C	XP_006712084.1:n.231+34G>C
XM_005264326.4:c.279+34G>C	XP_005264383.1:n.279+34G>C
XM_006712021.3:c.231+34G>C	XP_006712084.1:n.231+34G>C
XM_017004150.1:c.261+34G>C	XP_016859639.1:n.261+34G>C
XM_017004151.1:c.231+34G>C	XP_016859640.1:n.231+34G>C
XM_017004152.1:c.120+34G>C	XP_016859641.1:n.120+34G>C
XM_024452913.1:c.231+34G>C	XP_024308681.1:n.231+34G>C
NM_002437.5:c.279+34G>C MANE Select	NP_002428.1:n.279+34G>C