Canonical Allele Identifier: CA390514028

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745152T>C (hg19) ; chr14:g.77278809T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278809T>C , CM000676.2:g.77278809T>C	GRCh38
NC_000014.8:g.77745152T>C , CM000676.1:g.77745152T>C	GRCh37
NC_000014.7:g.76814905T>C	NCBI36
NG_008897.1:g.47074A>G , LRG_844:g.47074A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.877A>G
ENST00000556394.2:c.1493A>G	ENSP00000451967.2:p.Tyr498Cys
ENST00000682128.1:c.253A>G	ENSP00000506976.1:n.253A>G
ENST00000682247.1:c.1941A>G	ENSP00000507213.1:p.Leu647=
ENST00000682395.1:n.2416A>G
ENST00000682459.1:n.1655A>G
ENST00000682467.1:c.1892-301A>G	ENSP00000508062.1:n.1892-301A>G
ENST00000682615.1:n.306A>G
ENST00000682795.1:c.2099A>G	ENSP00000507574.1:p.Tyr700Cys
ENST00000682895.1:n.1668A>G
ENST00000682955.1:n.1526A>G
ENST00000683095.1:c.358A>G	ENSP00000508040.1:n.358A>G
ENST00000683188.1:c.2213A>G
ENST00000683380.1:n.1616A>G
ENST00000683828.1:c.1661A>G
ENST00000683907.1:c.217A>G	ENSP00000507754.1:p.Thr73Ala
ENST00000684172.1:c.328A>G	ENSP00000508391.1:n.328A>G
ENST00000684259.1:n.3719A>G
ENST00000684538.1:n.1331A>G
ENST00000684549.1:n.1503A>G
ENST00000261534.9:c.1952A>G MANE Select	ENSP00000261534.4:p.Tyr651Cys
ENST00000261534.8:c.1952A>G	ENSP00000261534.4:p.Tyr651Cys
ENST00000452340.7:n.2928A>G
ENST00000554767.5:n.2738A>G
ENST00000555710.1:c.313A>G	ENSP00000451730.1:n.313A>G
ENST00000556171.1:c.544A>G
ENST00000556394.1:c.88-301A>G
ENST00000556446.1:n.253A>G
ENST00000602717.5:c.167A>G	ENSP00000487704.1:p.Tyr56Cys
NM_013382.5:c.1952A>G , LRG_844t1:c.1952A>G	NP_037514.2:p.Tyr651Cys
XM_011536675.1:c.2141A>G	XP_011534977.1:p.Tyr714Cys
XM_011536676.1:c.1808A>G	XP_011534978.1:p.Tyr603Cys
XM_011536677.1:c.1682A>G	XP_011534979.1:p.Tyr561Cys
XM_011536679.1:c.1235A>G	XP_011534981.1:p.Tyr412Cys
XR_943416.1:n.2205A>G
XM_011536675.2:c.2141A>G	XP_011534977.1:p.Tyr714Cys
XM_011536676.2:c.1808A>G	XP_011534978.1:p.Tyr603Cys
XM_011536677.3:c.1682A>G	XP_011534979.1:p.Tyr561Cys
XR_001750279.1:n.2238A>G
XR_001750282.1:n.2891A>G
XR_943416.3:n.2203A>G
NM_013382.6:c.1952A>G	NP_037514.2:p.Tyr651Cys
NM_013382.7:c.1952A>G MANE Select	NP_037514.2:p.Tyr651Cys