Canonical Allele Identifier: CA390513712

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745075T>G (hg19) ; chr14:g.77278732T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278732T>G , CM000676.2:g.77278732T>G	GRCh38
NC_000014.8:g.77745075T>G , CM000676.1:g.77745075T>G	GRCh37
NC_000014.7:g.76814828T>G	NCBI36
NG_008897.1:g.47151A>C , LRG_844:g.47151A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.954A>C
ENST00000556394.2:c.1570A>C	ENSP00000451967.2:p.Thr524Pro
ENST00000682128.1:c.330A>C	ENSP00000506976.1:n.330A>C
ENST00000682247.1:c.2018A>C	ENSP00000507213.1:p.Asp673Ala
ENST00000682395.1:n.2493A>C
ENST00000682459.1:n.1732A>C
ENST00000682467.1:c.1892-224A>C	ENSP00000508062.1:n.1892-224A>C
ENST00000682615.1:n.383A>C
ENST00000682795.1:c.2176A>C	ENSP00000507574.1:p.Thr726Pro
ENST00000682895.1:n.1745A>C
ENST00000682955.1:n.1603A>C
ENST00000683095.1:c.435A>C	ENSP00000508040.1:n.435A>C
ENST00000683188.1:c.2290A>C
ENST00000683380.1:n.1693A>C
ENST00000683907.1:c.294A>C	ENSP00000507754.1:n.294A>C
ENST00000684172.1:c.405A>C	ENSP00000508391.1:n.405A>C
ENST00000684259.1:n.3796A>C
ENST00000684538.1:n.1408A>C
ENST00000684549.1:n.1580A>C
ENST00000261534.9:c.2029A>C MANE Select	ENSP00000261534.4:p.Thr677Pro
ENST00000261534.8:c.2029A>C	ENSP00000261534.4:p.Thr677Pro
ENST00000452340.7:n.3005A>C
ENST00000554767.5:n.2815A>C
ENST00000555710.1:c.390A>C	ENSP00000451730.1:n.390A>C
ENST00000556394.1:c.88-224A>C
ENST00000556446.1:n.330A>C
ENST00000602717.5:c.244A>C	ENSP00000487704.1:p.Thr82Pro
NM_013382.5:c.2029A>C , LRG_844t1:c.2029A>C	NP_037514.2:p.Thr677Pro
XM_011536675.1:c.2218A>C	XP_011534977.1:p.Thr740Pro
XM_011536676.1:c.1885A>C	XP_011534978.1:p.Thr629Pro
XM_011536677.1:c.1759A>C	XP_011534979.1:p.Thr587Pro
XM_011536679.1:c.1312A>C	XP_011534981.1:p.Thr438Pro
XR_943416.1:n.2282A>C
XM_011536675.2:c.2218A>C	XP_011534977.1:p.Thr740Pro
XM_011536676.2:c.1885A>C	XP_011534978.1:p.Thr629Pro
XM_011536677.3:c.1759A>C	XP_011534979.1:p.Thr587Pro
XR_001750279.1:n.2315A>C
XR_001750282.1:n.2968A>C
XR_943416.3:n.2280A>C
NM_013382.6:c.2029A>C	NP_037514.2:p.Thr677Pro
NM_013382.7:c.2029A>C MANE Select	NP_037514.2:p.Thr677Pro