Canonical Allele Identifier: CA390513515

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744801A>C (hg19) ; chr14:g.77278458A>C (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1008T>G
ENST00000556394.2:c.1624T>G	ENSP00000451967.2:p.Trp542Gly
ENST00000682247.1:c.2072T>G	ENSP00000507213.1:p.Met691Arg
ENST00000682395.1:n.2547T>G
ENST00000682459.1:n.1786T>G
ENST00000682467.1:c.1942T>G	ENSP00000508062.1:p.Trp648Gly
ENST00000682795.1:c.2230T>G	ENSP00000507574.1:p.Trp744Gly
ENST00000682895.1:n.1799T>G
ENST00000682955.1:n.1657T>G
ENST00000683188.1:c.2344T>G
ENST00000683380.1:n.1747T>G
ENST00000683907.1:c.348T>G	ENSP00000507754.1:n.348T>G
ENST00000684259.1:n.3850T>G
ENST00000684538.1:n.1462T>G
ENST00000684549.1:n.1634T>G
ENST00000261534.9:c.2083T>G MANE Select	ENSP00000261534.4:p.Trp695Gly
ENST00000261534.8:c.2083T>G	ENSP00000261534.4:p.Trp695Gly
ENST00000452340.7:n.3059T>G
ENST00000554767.5:n.2869T>G
ENST00000555710.1:c.444T>G	ENSP00000451730.1:n.444T>G
ENST00000556394.1:c.138T>G
ENST00000556446.1:n.384T>G
ENST00000602717.5:c.298T>G	ENSP00000487704.1:p.Trp100Gly
NM_013382.5:c.2083T>G , LRG_844t1:c.2083T>G	NP_037514.2:p.Trp695Gly
XM_011536675.1:c.2272T>G	XP_011534977.1:p.Trp758Gly
XM_011536676.1:c.1939T>G	XP_011534978.1:p.Trp647Gly
XM_011536677.1:c.1813T>G	XP_011534979.1:p.Trp605Gly
XM_011536679.1:c.1366T>G	XP_011534981.1:p.Trp456Gly
XR_943416.1:n.2336T>G
XM_011536675.2:c.2272T>G	XP_011534977.1:p.Trp758Gly
XM_011536676.2:c.1939T>G	XP_011534978.1:p.Trp647Gly
XM_011536677.3:c.1813T>G	XP_011534979.1:p.Trp605Gly
XR_001750279.1:n.2369T>G
XR_001750282.1:n.3022T>G
XR_943416.3:n.2334T>G
NM_013382.6:c.2083T>G	NP_037514.2:p.Trp695Gly
NM_013382.7:c.2083T>G MANE Select	NP_037514.2:p.Trp695Gly