Canonical Allele Identifier: CA531764216

Gene: MPV17

Linked Data

• dbSNP Id: rs1417960395
• gnomAD v2: 2-27535802-T-C
• gnomAD v3: 2-27312935-T-C
• gnomAD v4: 2-27312935-T-C
• MyVariant Identifiers: chr2:g.27535802T>C (hg19) ; chr2:g.27312935T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27312935T>C , CM000664.2:g.27312935T>C	GRCh38
NC_000002.11:g.27535802T>C , CM000664.1:g.27535802T>C	GRCh37
NC_000002.10:g.27389306T>C	NCBI36
NG_008075.1:g.14630A>G
NG_033055.1:g.329A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.186+59A>G MANE Select	ENSP00000369383.1:n.186+59A>G
ENST00000233545.6:c.186+59A>G	ENSP00000233545.2:n.186+59A>G
ENST00000357186.10:c.19-163A>G	ENSP00000349713.6:n.19-163A>G
ENST00000380044.5:c.186+59A>G	ENSP00000369383.1:n.186+59A>G
ENST00000402310.5:c.186+59A>G	ENSP00000383955.1:n.186+59A>G
ENST00000402722.5:c.151+59A>G	ENSP00000386000.1:n.151+59A>G
ENST00000403262.6:c.186+59A>G	ENSP00000385671.1:n.186+59A>G
ENST00000405076.5:c.186+59A>G	ENSP00000385175.1:n.186+59A>G
ENST00000405983.5:c.231+59A>G	ENSP00000384586.1:n.231+59A>G
ENST00000415514.5:c.228-163A>G	ENSP00000388043.1:n.228-163A>G
ENST00000426513.6:c.151+59A>G	ENSP00000403824.2:n.151+59A>G
ENST00000428910.5:c.108+59A>G	ENSP00000405235.1:n.108+59A>G
ENST00000430991.5:c.116+59A>G
ENST00000475085.1:n.52A>G
ENST00000616446.1:n.163+59A>G
ENST00000616707.1:n.453A>G
ENST00000617583.4:n.212+59A>G
ENST00000621183.4:n.242+59A>G
ENST00000621470.4:n.202+59A>G
ENST00000622003.4:n.359+59A>G
NM_002437.4:c.186+59A>G	NP_002428.1:n.186+59A>G
XM_005264326.2:c.186+59A>G	XP_005264383.1:n.186+59A>G
XM_005264327.2:c.27+59A>G	XP_005264384.1:n.27+59A>G
XM_006712021.2:c.138+59A>G	XP_006712084.1:n.138+59A>G
XM_005264326.4:c.186+59A>G	XP_005264383.1:n.186+59A>G
XM_006712021.3:c.138+59A>G	XP_006712084.1:n.138+59A>G
XM_017004150.1:c.168+59A>G	XP_016859639.1:n.168+59A>G
XM_017004151.1:c.138+59A>G	XP_016859640.1:n.138+59A>G
XM_017004152.1:c.27+59A>G	XP_016859641.1:n.27+59A>G
XM_024452913.1:c.138+59A>G	XP_024308681.1:n.138+59A>G
NM_002437.5:c.186+59A>G MANE Select	NP_002428.1:n.186+59A>G