Canonical Allele Identifier: CA531428322

Gene: MPV17

Linked Data

• dbSNP Id: rs1042901689
• gnomAD v2: 2-27532424-A-C
• gnomAD v3: 2-27309556-A-C
• gnomAD v4: 2-27309556-A-C
• MyVariant Identifiers: chr2:g.27532424A>C (hg19) ; chr2:g.27309556A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27309556A>C , CM000664.2:g.27309556A>C	GRCh38
NC_000002.11:g.27532424A>C , CM000664.1:g.27532424A>C	GRCh37
NC_000002.10:g.27385928A>C	NCBI36
NG_008075.1:g.18008T>G
NG_033055.1:g.3707T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000380044.6:c.*356T>G MANE Select	ENSP00000369383.1:n.*356T>G
ENST00000233545.6:c.*356T>G	ENSP00000233545.2:n.*356T>G
ENST00000357186.10:c.*356T>G	ENSP00000349713.6:n.*356T>G
ENST00000380044.5:c.*356T>G	ENSP00000369383.1:n.*356T>G
ENST00000402310.5:c.*321T>G	ENSP00000383955.1:n.*321T>G
ENST00000402722.5:c.*466T>G	ENSP00000386000.1:n.*466T>G
ENST00000426513.6:c.*552T>G	ENSP00000403824.2:n.*552T>G
ENST00000620797.4:n.560T>G
NM_002437.4:c.*356T>G	NP_002428.1:n.*356T>G
XM_005264326.2:c.*356T>G	XP_005264383.1:n.*356T>G
XM_005264327.2:c.*356T>G	XP_005264384.1:n.*356T>G
XM_006712021.2:c.*356T>G	XP_006712084.1:n.*356T>G
XM_005264326.4:c.*356T>G	XP_005264383.1:n.*356T>G
XM_006712021.3:c.*356T>G	XP_006712084.1:n.*356T>G
XM_017004150.1:c.*356T>G	XP_016859639.1:n.*356T>G
XM_017004151.1:c.*356T>G	XP_016859640.1:n.*356T>G
XM_017004152.1:c.*356T>G	XP_016859641.1:n.*356T>G
XM_024452913.1:c.*356T>G	XP_024308681.1:n.*356T>G
NM_002437.5:c.*356T>G MANE Select	NP_002428.1:n.*356T>G