Canonical Allele Identifier: CA390513488

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744794A>C (hg19) ; chr14:g.77278451A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278451A>C , CM000676.2:g.77278451A>C	GRCh38
NC_000014.8:g.77744794A>C , CM000676.1:g.77744794A>C	GRCh37
NC_000014.7:g.76814547A>C	NCBI36
NG_008897.1:g.47432T>G , LRG_844:g.47432T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1015T>G
ENST00000556394.2:c.1631T>G	ENSP00000451967.2:p.Leu544Arg
ENST00000682247.1:c.2079T>G	ENSP00000507213.1:p.Pro693=
ENST00000682395.1:n.2554T>G
ENST00000682459.1:n.1793T>G
ENST00000682467.1:c.1949T>G	ENSP00000508062.1:p.Leu650Arg
ENST00000682795.1:c.2237T>G	ENSP00000507574.1:p.Leu746Arg
ENST00000682895.1:n.1806T>G
ENST00000682955.1:n.1664T>G
ENST00000683188.1:c.2351T>G
ENST00000683380.1:n.1754T>G
ENST00000683907.1:c.355T>G	ENSP00000507754.1:n.355T>G
ENST00000684259.1:n.3857T>G
ENST00000684538.1:n.1469T>G
ENST00000684549.1:n.1641T>G
ENST00000261534.9:c.2090T>G MANE Select	ENSP00000261534.4:p.Leu697Arg
ENST00000261534.8:c.2090T>G	ENSP00000261534.4:p.Leu697Arg
ENST00000452340.7:n.3066T>G
ENST00000554767.5:n.2876T>G
ENST00000555710.1:c.451T>G	ENSP00000451730.1:n.451T>G
ENST00000556394.1:c.145T>G
ENST00000556446.1:n.391T>G
ENST00000602717.5:c.305T>G	ENSP00000487704.1:p.Leu102Arg
NM_013382.5:c.2090T>G , LRG_844t1:c.2090T>G	NP_037514.2:p.Leu697Arg
XM_011536675.1:c.2279T>G	XP_011534977.1:p.Leu760Arg
XM_011536676.1:c.1946T>G	XP_011534978.1:p.Leu649Arg
XM_011536677.1:c.1820T>G	XP_011534979.1:p.Leu607Arg
XM_011536679.1:c.1373T>G	XP_011534981.1:p.Leu458Arg
XR_943416.1:n.2343T>G
XM_011536675.2:c.2279T>G	XP_011534977.1:p.Leu760Arg
XM_011536676.2:c.1946T>G	XP_011534978.1:p.Leu649Arg
XM_011536677.3:c.1820T>G	XP_011534979.1:p.Leu607Arg
XR_001750279.1:n.2376T>G
XR_001750282.1:n.3029T>G
XR_943416.3:n.2341T>G
NM_013382.6:c.2090T>G	NP_037514.2:p.Leu697Arg
NM_013382.7:c.2090T>G MANE Select	NP_037514.2:p.Leu697Arg