Canonical Allele Identifier: CA487509526

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745190T>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278847T>A , CM000676.2:g.77278847T>A	GRCh38
NC_000014.8:g.77745190T>A , CM000676.1:g.77745190T>A	GRCh37
NC_000014.7:g.76814943T>A	NCBI36
NG_008897.1:g.47036A>T , LRG_844:g.47036A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.839A>T
ENST00000556394.2:c.1455A>T	ENSP00000451967.2:p.Arg485=
ENST00000682128.1:c.215A>T	ENSP00000506976.1:n.215A>T
ENST00000682247.1:c.1903A>T	ENSP00000507213.1:p.Arg635Trp
ENST00000682395.1:n.2378A>T
ENST00000682459.1:n.1617A>T
ENST00000682467.1:c.1892-339A>T	ENSP00000508062.1:n.1892-339A>T
ENST00000682615.1:n.268A>T
ENST00000682795.1:c.2061A>T	ENSP00000507574.1:p.Arg687=
ENST00000682895.1:n.1630A>T
ENST00000682955.1:n.1488A>T
ENST00000683095.1:c.320A>T	ENSP00000508040.1:n.320A>T
ENST00000683188.1:c.2175A>T
ENST00000683380.1:n.1578A>T
ENST00000683828.1:c.1623A>T
ENST00000683907.1:c.179A>T	ENSP00000507754.1:p.Glu60Val
ENST00000684172.1:c.290A>T	ENSP00000508391.1:n.290A>T
ENST00000684259.1:n.3681A>T
ENST00000684538.1:n.1293A>T
ENST00000684549.1:n.1465A>T
ENST00000261534.9:c.1914A>T MANE Select	ENSP00000261534.4:p.Arg638=
ENST00000261534.8:c.1914A>T	ENSP00000261534.4:p.Arg638=
ENST00000452340.7:n.2890A>T
ENST00000554767.5:n.2700A>T
ENST00000555134.1:n.839A>T
ENST00000555710.1:c.275A>T	ENSP00000451730.1:n.275A>T
ENST00000556171.1:c.506A>T
ENST00000556394.1:c.88-339A>T
ENST00000556446.1:n.215A>T
ENST00000602717.5:c.129A>T	ENSP00000487704.1:p.Arg43=
NM_013382.5:c.1914A>T , LRG_844t1:c.1914A>T	NP_037514.2:p.Arg638=
XM_011536675.1:c.2103A>T	XP_011534977.1:p.Arg701=
XM_011536676.1:c.1770A>T	XP_011534978.1:p.Arg590=
XM_011536677.1:c.1644A>T	XP_011534979.1:p.Arg548=
XM_011536679.1:c.1197A>T	XP_011534981.1:p.Arg399=
XR_943416.1:n.2167A>T
XM_011536675.2:c.2103A>T	XP_011534977.1:p.Arg701=
XM_011536676.2:c.1770A>T	XP_011534978.1:p.Arg590=
XM_011536677.3:c.1644A>T	XP_011534979.1:p.Arg548=
XR_001750279.1:n.2200A>T
XR_001750282.1:n.2853A>T
XR_943416.3:n.2165A>T
NM_013382.6:c.1914A>T	NP_037514.2:p.Arg638=
NM_013382.7:c.1914A>T MANE Select	NP_037514.2:p.Arg638=