Canonical Allele Identifier: CA7285550

Gene: POMT2

Linked Data

• ClinVar Variation Id: 994733
• ClinVar RCV Id: RCV001288360 ; RCV001871711
• dbSNP Id: rs139308429
• ExAC: 14:77744801 A / T
• gnomAD v2: 14-77744801-A-T
• gnomAD v3: 14-77278458-A-T
• gnomAD v4: 14-77278458-A-T
• MyVariant Identifiers: chr14:g.77744801A>T (hg19) ; chr14:g.77278458A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278458A>T , CM000676.2:g.77278458A>T	GRCh38
NC_000014.8:g.77744801A>T , CM000676.1:g.77744801A>T	GRCh37
NC_000014.7:g.76814554A>T	NCBI36
NG_008897.1:g.47425T>A , LRG_844:g.47425T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1008T>A
ENST00000556394.2:c.1624T>A	ENSP00000451967.2:p.Trp542Arg
ENST00000682247.1:c.2072T>A	ENSP00000507213.1:p.Met691Lys
ENST00000682395.1:n.2547T>A
ENST00000682459.1:n.1786T>A
ENST00000682467.1:c.1942T>A	ENSP00000508062.1:p.Trp648Arg
ENST00000682795.1:c.2230T>A	ENSP00000507574.1:p.Trp744Arg
ENST00000682895.1:n.1799T>A
ENST00000682955.1:n.1657T>A
ENST00000683188.1:c.2344T>A
ENST00000683380.1:n.1747T>A
ENST00000683907.1:c.348T>A	ENSP00000507754.1:n.348T>A
ENST00000684259.1:n.3850T>A
ENST00000684538.1:n.1462T>A
ENST00000684549.1:n.1634T>A
ENST00000261534.9:c.2083T>A MANE Select	ENSP00000261534.4:p.Trp695Arg
ENST00000261534.8:c.2083T>A	ENSP00000261534.4:p.Trp695Arg
ENST00000452340.7:n.3059T>A
ENST00000554767.5:n.2869T>A
ENST00000555710.1:c.444T>A	ENSP00000451730.1:n.444T>A
ENST00000556394.1:c.138T>A
ENST00000556446.1:n.384T>A
ENST00000602717.5:c.298T>A	ENSP00000487704.1:p.Trp100Arg
NM_013382.5:c.2083T>A , LRG_844t1:c.2083T>A	NP_037514.2:p.Trp695Arg
XM_011536675.1:c.2272T>A	XP_011534977.1:p.Trp758Arg
XM_011536676.1:c.1939T>A	XP_011534978.1:p.Trp647Arg
XM_011536677.1:c.1813T>A	XP_011534979.1:p.Trp605Arg
XM_011536679.1:c.1366T>A	XP_011534981.1:p.Trp456Arg
XR_943416.1:n.2336T>A
XM_011536675.2:c.2272T>A	XP_011534977.1:p.Trp758Arg
XM_011536676.2:c.1939T>A	XP_011534978.1:p.Trp647Arg
XM_011536677.3:c.1813T>A	XP_011534979.1:p.Trp605Arg
XR_001750279.1:n.2369T>A
XR_001750282.1:n.3022T>A
XR_943416.3:n.2334T>A
NM_013382.6:c.2083T>A	NP_037514.2:p.Trp695Arg
NM_013382.7:c.2083T>A MANE Select	NP_037514.2:p.Trp695Arg