Canonical Allele Identifier: CA390513781

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745094C>A (hg19) ; chr14:g.77278751C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278751C>A , CM000676.2:g.77278751C>A	GRCh38
NC_000014.8:g.77745094C>A , CM000676.1:g.77745094C>A	GRCh37
NC_000014.7:g.76814847C>A	NCBI36
NG_008897.1:g.47132G>T , LRG_844:g.47132G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.935G>T
ENST00000556394.2:c.1551G>T	ENSP00000451967.2:p.Met517Ile
ENST00000682128.1:c.311G>T	ENSP00000506976.1:n.311G>T
ENST00000682247.1:c.1999G>T	ENSP00000507213.1:p.Ala667Ser
ENST00000682395.1:n.2474G>T
ENST00000682459.1:n.1713G>T
ENST00000682467.1:c.1892-243G>T	ENSP00000508062.1:n.1892-243G>T
ENST00000682615.1:n.364G>T
ENST00000682795.1:c.2157G>T	ENSP00000507574.1:p.Met719Ile
ENST00000682895.1:n.1726G>T
ENST00000682955.1:n.1584G>T
ENST00000683095.1:c.416G>T	ENSP00000508040.1:n.416G>T
ENST00000683188.1:c.2271G>T
ENST00000683380.1:n.1674G>T
ENST00000683907.1:c.275G>T	ENSP00000507754.1:n.275G>T
ENST00000684172.1:c.386G>T	ENSP00000508391.1:n.386G>T
ENST00000684259.1:n.3777G>T
ENST00000684538.1:n.1389G>T
ENST00000684549.1:n.1561G>T
ENST00000261534.9:c.2010G>T MANE Select	ENSP00000261534.4:p.Met670Ile
ENST00000261534.8:c.2010G>T	ENSP00000261534.4:p.Met670Ile
ENST00000452340.7:n.2986G>T
ENST00000554767.5:n.2796G>T
ENST00000555710.1:c.371G>T	ENSP00000451730.1:n.371G>T
ENST00000556394.1:c.88-243G>T
ENST00000556446.1:n.311G>T
ENST00000602717.5:c.225G>T	ENSP00000487704.1:p.Met75Ile
NM_013382.5:c.2010G>T , LRG_844t1:c.2010G>T	NP_037514.2:p.Met670Ile
XM_011536675.1:c.2199G>T	XP_011534977.1:p.Met733Ile
XM_011536676.1:c.1866G>T	XP_011534978.1:p.Met622Ile
XM_011536677.1:c.1740G>T	XP_011534979.1:p.Met580Ile
XM_011536679.1:c.1293G>T	XP_011534981.1:p.Met431Ile
XR_943416.1:n.2263G>T
XM_011536675.2:c.2199G>T	XP_011534977.1:p.Met733Ile
XM_011536676.2:c.1866G>T	XP_011534978.1:p.Met622Ile
XM_011536677.3:c.1740G>T	XP_011534979.1:p.Met580Ile
XR_001750279.1:n.2296G>T
XR_001750282.1:n.2949G>T
XR_943416.3:n.2261G>T
NM_013382.6:c.2010G>T	NP_037514.2:p.Met670Ile
NM_013382.7:c.2010G>T MANE Select	NP_037514.2:p.Met670Ile