Canonical Allele Identifier: CA390514208

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745194A>C (hg19) ; chr14:g.77278851A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278851A>C , CM000676.2:g.77278851A>C	GRCh38
NC_000014.8:g.77745194A>C , CM000676.1:g.77745194A>C	GRCh37
NC_000014.7:g.76814947A>C	NCBI36
NG_008897.1:g.47032T>G , LRG_844:g.47032T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.835T>G
ENST00000556394.2:c.1451T>G	ENSP00000451967.2:p.Leu484Arg
ENST00000682128.1:c.211T>G	ENSP00000506976.1:n.211T>G
ENST00000682247.1:c.1899T>G	ENSP00000507213.1:p.Ala633=
ENST00000682395.1:n.2374T>G
ENST00000682459.1:n.1613T>G
ENST00000682467.1:c.1892-343T>G	ENSP00000508062.1:n.1892-343T>G
ENST00000682615.1:n.264T>G
ENST00000682795.1:c.2057T>G	ENSP00000507574.1:p.Leu686Arg
ENST00000682895.1:n.1626T>G
ENST00000682955.1:n.1484T>G
ENST00000683095.1:c.316T>G	ENSP00000508040.1:n.316T>G
ENST00000683188.1:c.2171T>G
ENST00000683380.1:n.1574T>G
ENST00000683828.1:c.1619T>G
ENST00000683907.1:c.175T>G	ENSP00000507754.1:p.Phe59Val
ENST00000684172.1:c.286T>G	ENSP00000508391.1:n.286T>G
ENST00000684259.1:n.3677T>G
ENST00000684538.1:n.1289T>G
ENST00000684549.1:n.1461T>G
ENST00000261534.9:c.1910T>G MANE Select	ENSP00000261534.4:p.Leu637Arg
ENST00000261534.8:c.1910T>G	ENSP00000261534.4:p.Leu637Arg
ENST00000452340.7:n.2886T>G
ENST00000554767.5:n.2696T>G
ENST00000555134.1:n.835T>G
ENST00000555710.1:c.271T>G	ENSP00000451730.1:n.271T>G
ENST00000556171.1:c.502T>G
ENST00000556394.1:c.88-343T>G
ENST00000556446.1:n.211T>G
ENST00000602717.5:c.125T>G	ENSP00000487704.1:p.Leu42Arg
NM_013382.5:c.1910T>G , LRG_844t1:c.1910T>G	NP_037514.2:p.Leu637Arg
XM_011536675.1:c.2099T>G	XP_011534977.1:p.Leu700Arg
XM_011536676.1:c.1766T>G	XP_011534978.1:p.Leu589Arg
XM_011536677.1:c.1640T>G	XP_011534979.1:p.Leu547Arg
XM_011536679.1:c.1193T>G	XP_011534981.1:p.Leu398Arg
XR_943416.1:n.2163T>G
XM_011536675.2:c.2099T>G	XP_011534977.1:p.Leu700Arg
XM_011536676.2:c.1766T>G	XP_011534978.1:p.Leu589Arg
XM_011536677.3:c.1640T>G	XP_011534979.1:p.Leu547Arg
XR_001750279.1:n.2196T>G
XR_001750282.1:n.2849T>G
XR_943416.3:n.2161T>G
NM_013382.6:c.1910T>G	NP_037514.2:p.Leu637Arg
NM_013382.7:c.1910T>G MANE Select	NP_037514.2:p.Leu637Arg