Canonical Allele Identifier: CA390514070

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745161G>T (hg19) ; chr14:g.77278818G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278818G>T , CM000676.2:g.77278818G>T	GRCh38
NC_000014.8:g.77745161G>T , CM000676.1:g.77745161G>T	GRCh37
NC_000014.7:g.76814914G>T	NCBI36
NG_008897.1:g.47065C>A , LRG_844:g.47065C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.868C>A
ENST00000556394.2:c.1484C>A	ENSP00000451967.2:p.Thr495Lys
ENST00000682128.1:c.244C>A	ENSP00000506976.1:n.244C>A
ENST00000682247.1:c.1932C>A	ENSP00000507213.1:p.Asp644Glu
ENST00000682395.1:n.2407C>A
ENST00000682459.1:n.1646C>A
ENST00000682467.1:c.1892-310C>A	ENSP00000508062.1:n.1892-310C>A
ENST00000682615.1:n.297C>A
ENST00000682795.1:c.2090C>A	ENSP00000507574.1:p.Thr697Lys
ENST00000682895.1:n.1659C>A
ENST00000682955.1:n.1517C>A
ENST00000683095.1:c.349C>A	ENSP00000508040.1:n.349C>A
ENST00000683188.1:c.2204C>A
ENST00000683380.1:n.1607C>A
ENST00000683828.1:c.1652C>A
ENST00000683907.1:c.208C>A	ENSP00000507754.1:p.His70Asn
ENST00000684172.1:c.319C>A	ENSP00000508391.1:n.319C>A
ENST00000684259.1:n.3710C>A
ENST00000684538.1:n.1322C>A
ENST00000684549.1:n.1494C>A
ENST00000261534.9:c.1943C>A MANE Select	ENSP00000261534.4:p.Thr648Lys
ENST00000261534.8:c.1943C>A	ENSP00000261534.4:p.Thr648Lys
ENST00000452340.7:n.2919C>A
ENST00000554767.5:n.2729C>A
ENST00000555134.1:n.868C>A
ENST00000555710.1:c.304C>A	ENSP00000451730.1:n.304C>A
ENST00000556171.1:c.535C>A
ENST00000556394.1:c.88-310C>A
ENST00000556446.1:n.244C>A
ENST00000602717.5:c.158C>A	ENSP00000487704.1:p.Thr53Lys
NM_013382.5:c.1943C>A , LRG_844t1:c.1943C>A	NP_037514.2:p.Thr648Lys
XM_011536675.1:c.2132C>A	XP_011534977.1:p.Thr711Lys
XM_011536676.1:c.1799C>A	XP_011534978.1:p.Thr600Lys
XM_011536677.1:c.1673C>A	XP_011534979.1:p.Thr558Lys
XM_011536679.1:c.1226C>A	XP_011534981.1:p.Thr409Lys
XR_943416.1:n.2196C>A
XM_011536675.2:c.2132C>A	XP_011534977.1:p.Thr711Lys
XM_011536676.2:c.1799C>A	XP_011534978.1:p.Thr600Lys
XM_011536677.3:c.1673C>A	XP_011534979.1:p.Thr558Lys
XR_001750279.1:n.2229C>A
XR_001750282.1:n.2882C>A
XR_943416.3:n.2194C>A
NM_013382.6:c.1943C>A	NP_037514.2:p.Thr648Lys
NM_013382.7:c.1943C>A MANE Select	NP_037514.2:p.Thr648Lys