Canonical Allele Identifier: CA390513932

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745128C>A (hg19) ; chr14:g.77278785C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278785C>A , CM000676.2:g.77278785C>A	GRCh38
NC_000014.8:g.77745128C>A , CM000676.1:g.77745128C>A	GRCh37
NC_000014.7:g.76814881C>A	NCBI36
NG_008897.1:g.47098G>T , LRG_844:g.47098G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.901G>T
ENST00000556394.2:c.1517G>T	ENSP00000451967.2:p.Arg506Leu
ENST00000682128.1:c.277G>T	ENSP00000506976.1:n.277G>T
ENST00000682247.1:c.1965G>T	ENSP00000507213.1:p.Pro655=
ENST00000682395.1:n.2440G>T
ENST00000682459.1:n.1679G>T
ENST00000682467.1:c.1892-277G>T	ENSP00000508062.1:n.1892-277G>T
ENST00000682615.1:n.330G>T
ENST00000682795.1:c.2123G>T	ENSP00000507574.1:p.Arg708Leu
ENST00000682895.1:n.1692G>T
ENST00000682955.1:n.1550G>T
ENST00000683095.1:c.382G>T	ENSP00000508040.1:n.382G>T
ENST00000683188.1:c.2237G>T
ENST00000683380.1:n.1640G>T
ENST00000683828.1:c.1685G>T
ENST00000683907.1:c.241G>T	ENSP00000507754.1:n.241G>T
ENST00000684172.1:c.352G>T	ENSP00000508391.1:n.352G>T
ENST00000684259.1:n.3743G>T
ENST00000684538.1:n.1355G>T
ENST00000684549.1:n.1527G>T
ENST00000261534.9:c.1976G>T MANE Select	ENSP00000261534.4:p.Arg659Leu
ENST00000261534.8:c.1976G>T	ENSP00000261534.4:p.Arg659Leu
ENST00000452340.7:n.2952G>T
ENST00000554767.5:n.2762G>T
ENST00000555710.1:c.337G>T	ENSP00000451730.1:n.337G>T
ENST00000556171.1:c.568G>T
ENST00000556394.1:c.88-277G>T
ENST00000556446.1:n.277G>T
ENST00000602717.5:c.191G>T	ENSP00000487704.1:p.Arg64Leu
NM_013382.5:c.1976G>T , LRG_844t1:c.1976G>T	NP_037514.2:p.Arg659Leu
XM_011536675.1:c.2165G>T	XP_011534977.1:p.Arg722Leu
XM_011536676.1:c.1832G>T	XP_011534978.1:p.Arg611Leu
XM_011536677.1:c.1706G>T	XP_011534979.1:p.Arg569Leu
XM_011536679.1:c.1259G>T	XP_011534981.1:p.Arg420Leu
XR_943416.1:n.2229G>T
XM_011536675.2:c.2165G>T	XP_011534977.1:p.Arg722Leu
XM_011536676.2:c.1832G>T	XP_011534978.1:p.Arg611Leu
XM_011536677.3:c.1706G>T	XP_011534979.1:p.Arg569Leu
XR_001750279.1:n.2262G>T
XR_001750282.1:n.2915G>T
XR_943416.3:n.2227G>T
NM_013382.6:c.1976G>T	NP_037514.2:p.Arg659Leu
NM_013382.7:c.1976G>T MANE Select	NP_037514.2:p.Arg659Leu