Canonical Allele Identifier: CA346209529

Gene: MPV17

Linked Data

• dbSNP Id: rs1439382299
• gnomAD v2: 2-27535974-A-G
• gnomAD v3: 2-27313107-A-G
• gnomAD v4: 2-27313107-A-G
• MyVariant Identifiers: chr2:g.27535974A>G (hg19) ; chr2:g.27313107A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27313107A>G , CM000664.2:g.27313107A>G	GRCh38
NC_000002.11:g.27535974A>G , CM000664.1:g.27535974A>G	GRCh37
NC_000002.10:g.27389478A>G	NCBI36
NG_008075.1:g.14458T>C
NG_033055.1:g.157T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.73T>C MANE Select	ENSP00000369383.1:p.Ser25Pro
ENST00000233545.6:c.73T>C	ENSP00000233545.2:p.Ser25Pro
ENST00000357186.10:c.19-335T>C	ENSP00000349713.6:n.19-335T>C
ENST00000380044.5:c.73T>C	ENSP00000369383.1:p.Ser25Pro
ENST00000402310.5:c.73T>C	ENSP00000383955.1:p.Ser25Pro
ENST00000402722.5:c.71-33T>C	ENSP00000386000.1:n.71-33T>C
ENST00000403262.6:c.73T>C	ENSP00000385671.1:p.Ser25Pro
ENST00000405076.5:c.73T>C	ENSP00000385175.1:p.Ser25Pro
ENST00000405983.5:c.118T>C	ENSP00000384586.1:p.Ser40Pro
ENST00000415514.5:c.228-335T>C	ENSP00000388043.1:n.228-335T>C
ENST00000426513.6:c.71-33T>C	ENSP00000403824.2:n.71-33T>C
ENST00000428910.5:c.-6T>C	ENSP00000405235.1:n.-6T>C
ENST00000430991.5:c.3T>C
ENST00000616446.1:n.50T>C
ENST00000616707.1:n.281T>C
ENST00000617583.4:n.99T>C
ENST00000621183.4:n.129T>C
ENST00000621470.4:n.122-33T>C
ENST00000622003.4:n.246T>C
NM_002437.4:c.73T>C	NP_002428.1:p.Ser25Pro
XM_005264326.2:c.73T>C	XP_005264383.1:p.Ser25Pro
XM_005264327.2:c.-54-33T>C	XP_005264384.1:n.-54-33T>C
XM_006712021.2:c.25T>C	XP_006712084.1:p.Ser9Pro
XM_005264326.4:c.73T>C	XP_005264383.1:p.Ser25Pro
XM_006712021.3:c.25T>C	XP_006712084.1:p.Ser9Pro
XM_017004150.1:c.55T>C	XP_016859639.1:p.Ser19Pro
XM_017004151.1:c.25T>C	XP_016859640.1:p.Ser9Pro
XM_017004152.1:c.-54-33T>C	XP_016859641.1:n.-54-33T>C
XM_024452913.1:c.25T>C	XP_024308681.1:p.Ser9Pro
NM_002437.5:c.73T>C MANE Select	NP_002428.1:p.Ser25Pro