Canonical Allele Identifier: CA390514068

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.868C>G
ENST00000556394.2:c.1484C>G	ENSP00000451967.2:p.Thr495Arg
ENST00000682128.1:c.244C>G	ENSP00000506976.1:n.244C>G
ENST00000682247.1:c.1932C>G	ENSP00000507213.1:p.Asp644Glu
ENST00000682395.1:n.2407C>G
ENST00000682459.1:n.1646C>G
ENST00000682467.1:c.1892-310C>G	ENSP00000508062.1:n.1892-310C>G
ENST00000682615.1:n.297C>G
ENST00000682795.1:c.2090C>G	ENSP00000507574.1:p.Thr697Arg
ENST00000682895.1:n.1659C>G
ENST00000682955.1:n.1517C>G
ENST00000683095.1:c.349C>G	ENSP00000508040.1:n.349C>G
ENST00000683188.1:c.2204C>G
ENST00000683380.1:n.1607C>G
ENST00000683828.1:c.1652C>G
ENST00000683907.1:c.208C>G	ENSP00000507754.1:p.His70Asp
ENST00000684172.1:c.319C>G	ENSP00000508391.1:n.319C>G
ENST00000684259.1:n.3710C>G
ENST00000684538.1:n.1322C>G
ENST00000684549.1:n.1494C>G
ENST00000261534.9:c.1943C>G MANE Select	ENSP00000261534.4:p.Thr648Arg
ENST00000261534.8:c.1943C>G	ENSP00000261534.4:p.Thr648Arg
ENST00000452340.7:n.2919C>G
ENST00000554767.5:n.2729C>G
ENST00000555134.1:n.868C>G
ENST00000555710.1:c.304C>G	ENSP00000451730.1:n.304C>G
ENST00000556171.1:c.535C>G
ENST00000556394.1:c.88-310C>G
ENST00000556446.1:n.244C>G
ENST00000602717.5:c.158C>G	ENSP00000487704.1:p.Thr53Arg
NM_013382.5:c.1943C>G , LRG_844t1:c.1943C>G	NP_037514.2:p.Thr648Arg
XM_011536675.1:c.2132C>G	XP_011534977.1:p.Thr711Arg
XM_011536676.1:c.1799C>G	XP_011534978.1:p.Thr600Arg
XM_011536677.1:c.1673C>G	XP_011534979.1:p.Thr558Arg
XM_011536679.1:c.1226C>G	XP_011534981.1:p.Thr409Arg
XR_943416.1:n.2196C>G
XM_011536675.2:c.2132C>G	XP_011534977.1:p.Thr711Arg
XM_011536676.2:c.1799C>G	XP_011534978.1:p.Thr600Arg
XM_011536677.3:c.1673C>G	XP_011534979.1:p.Thr558Arg
XR_001750279.1:n.2229C>G
XR_001750282.1:n.2882C>G
XR_943416.3:n.2194C>G
NM_013382.6:c.1943C>G	NP_037514.2:p.Thr648Arg
NM_013382.7:c.1943C>G MANE Select	NP_037514.2:p.Thr648Arg