Canonical Allele Identifier: CA390513807

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745099C>T (hg19) ; chr14:g.77278756C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278756C>T , CM000676.2:g.77278756C>T	GRCh38
NC_000014.8:g.77745099C>T , CM000676.1:g.77745099C>T	GRCh37
NC_000014.7:g.76814852C>T	NCBI36
NG_008897.1:g.47127G>A , LRG_844:g.47127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.930G>A
ENST00000556394.2:c.1546G>A	ENSP00000451967.2:p.Ala516Thr
ENST00000682128.1:c.306G>A	ENSP00000506976.1:n.306G>A
ENST00000682247.1:c.1994G>A	ENSP00000507213.1:p.Ser665Asn
ENST00000682395.1:n.2469G>A
ENST00000682459.1:n.1708G>A
ENST00000682467.1:c.1892-248G>A	ENSP00000508062.1:n.1892-248G>A
ENST00000682615.1:n.359G>A
ENST00000682795.1:c.2152G>A	ENSP00000507574.1:p.Ala718Thr
ENST00000682895.1:n.1721G>A
ENST00000682955.1:n.1579G>A
ENST00000683095.1:c.411G>A	ENSP00000508040.1:n.411G>A
ENST00000683188.1:c.2266G>A
ENST00000683380.1:n.1669G>A
ENST00000683907.1:c.270G>A	ENSP00000507754.1:n.270G>A
ENST00000684172.1:c.381G>A	ENSP00000508391.1:n.381G>A
ENST00000684259.1:n.3772G>A
ENST00000684538.1:n.1384G>A
ENST00000684549.1:n.1556G>A
ENST00000261534.9:c.2005G>A MANE Select	ENSP00000261534.4:p.Ala669Thr
ENST00000261534.8:c.2005G>A	ENSP00000261534.4:p.Ala669Thr
ENST00000452340.7:n.2981G>A
ENST00000554767.5:n.2791G>A
ENST00000555710.1:c.366G>A	ENSP00000451730.1:n.366G>A
ENST00000556394.1:c.88-248G>A
ENST00000556446.1:n.306G>A
ENST00000602717.5:c.220G>A	ENSP00000487704.1:p.Ala74Thr
NM_013382.5:c.2005G>A , LRG_844t1:c.2005G>A	NP_037514.2:p.Ala669Thr
XM_011536675.1:c.2194G>A	XP_011534977.1:p.Ala732Thr
XM_011536676.1:c.1861G>A	XP_011534978.1:p.Ala621Thr
XM_011536677.1:c.1735G>A	XP_011534979.1:p.Ala579Thr
XM_011536679.1:c.1288G>A	XP_011534981.1:p.Ala430Thr
XR_943416.1:n.2258G>A
XM_011536675.2:c.2194G>A	XP_011534977.1:p.Ala732Thr
XM_011536676.2:c.1861G>A	XP_011534978.1:p.Ala621Thr
XM_011536677.3:c.1735G>A	XP_011534979.1:p.Ala579Thr
XR_001750279.1:n.2291G>A
XR_001750282.1:n.2944G>A
XR_943416.3:n.2256G>A
NM_013382.6:c.2005G>A	NP_037514.2:p.Ala669Thr
NM_013382.7:c.2005G>A MANE Select	NP_037514.2:p.Ala669Thr