Canonical Allele Identifier: CA390514127

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745173A>C (hg19) ; chr14:g.77278830A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278830A>C , CM000676.2:g.77278830A>C	GRCh38
NC_000014.8:g.77745173A>C , CM000676.1:g.77745173A>C	GRCh37
NC_000014.7:g.76814926A>C	NCBI36
NG_008897.1:g.47053T>G , LRG_844:g.47053T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.856T>G
ENST00000556394.2:c.1472T>G	ENSP00000451967.2:p.Leu491Arg
ENST00000682128.1:c.232T>G	ENSP00000506976.1:n.232T>G
ENST00000682247.1:c.1920T>G	ENSP00000507213.1:p.Pro640=
ENST00000682395.1:n.2395T>G
ENST00000682459.1:n.1634T>G
ENST00000682467.1:c.1892-322T>G	ENSP00000508062.1:n.1892-322T>G
ENST00000682615.1:n.285T>G
ENST00000682795.1:c.2078T>G	ENSP00000507574.1:p.Leu693Arg
ENST00000682895.1:n.1647T>G
ENST00000682955.1:n.1505T>G
ENST00000683095.1:c.337T>G	ENSP00000508040.1:n.337T>G
ENST00000683188.1:c.2192T>G
ENST00000683380.1:n.1595T>G
ENST00000683828.1:c.1640T>G
ENST00000683907.1:c.196T>G	ENSP00000507754.1:p.Cys66Gly
ENST00000684172.1:c.307T>G	ENSP00000508391.1:n.307T>G
ENST00000684259.1:n.3698T>G
ENST00000684538.1:n.1310T>G
ENST00000684549.1:n.1482T>G
ENST00000261534.9:c.1931T>G MANE Select	ENSP00000261534.4:p.Leu644Arg
ENST00000261534.8:c.1931T>G	ENSP00000261534.4:p.Leu644Arg
ENST00000452340.7:n.2907T>G
ENST00000554767.5:n.2717T>G
ENST00000555134.1:n.856T>G
ENST00000555710.1:c.292T>G	ENSP00000451730.1:n.292T>G
ENST00000556171.1:c.523T>G
ENST00000556394.1:c.88-322T>G
ENST00000556446.1:n.232T>G
ENST00000602717.5:c.146T>G	ENSP00000487704.1:p.Leu49Arg
NM_013382.5:c.1931T>G , LRG_844t1:c.1931T>G	NP_037514.2:p.Leu644Arg
XM_011536675.1:c.2120T>G	XP_011534977.1:p.Leu707Arg
XM_011536676.1:c.1787T>G	XP_011534978.1:p.Leu596Arg
XM_011536677.1:c.1661T>G	XP_011534979.1:p.Leu554Arg
XM_011536679.1:c.1214T>G	XP_011534981.1:p.Leu405Arg
XR_943416.1:n.2184T>G
XM_011536675.2:c.2120T>G	XP_011534977.1:p.Leu707Arg
XM_011536676.2:c.1787T>G	XP_011534978.1:p.Leu596Arg
XM_011536677.3:c.1661T>G	XP_011534979.1:p.Leu554Arg
XR_001750279.1:n.2217T>G
XR_001750282.1:n.2870T>G
XR_943416.3:n.2182T>G
NM_013382.6:c.1931T>G	NP_037514.2:p.Leu644Arg
NM_013382.7:c.1931T>G MANE Select	NP_037514.2:p.Leu644Arg