Canonical Allele Identifier: CA487509390

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745136C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278793C>A , CM000676.2:g.77278793C>A	GRCh38
NC_000014.8:g.77745136C>A , CM000676.1:g.77745136C>A	GRCh37
NC_000014.7:g.76814889C>A	NCBI36
NG_008897.1:g.47090G>T , LRG_844:g.47090G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.893G>T
ENST00000556394.2:c.1509G>T	ENSP00000451967.2:p.Leu503=
ENST00000682128.1:c.269G>T	ENSP00000506976.1:n.269G>T
ENST00000682247.1:c.1957G>T	ENSP00000507213.1:p.Asp653Tyr
ENST00000682395.1:n.2432G>T
ENST00000682459.1:n.1671G>T
ENST00000682467.1:c.1892-285G>T	ENSP00000508062.1:n.1892-285G>T
ENST00000682615.1:n.322G>T
ENST00000682795.1:c.2115G>T	ENSP00000507574.1:p.Leu705=
ENST00000682895.1:n.1684G>T
ENST00000682955.1:n.1542G>T
ENST00000683095.1:c.374G>T	ENSP00000508040.1:n.374G>T
ENST00000683188.1:c.2229G>T
ENST00000683380.1:n.1632G>T
ENST00000683828.1:c.1677G>T
ENST00000683907.1:c.233G>T	ENSP00000507754.1:p.Ter78Leu
ENST00000684172.1:c.344G>T	ENSP00000508391.1:n.344G>T
ENST00000684259.1:n.3735G>T
ENST00000684538.1:n.1347G>T
ENST00000684549.1:n.1519G>T
ENST00000261534.9:c.1968G>T MANE Select	ENSP00000261534.4:p.Leu656=
ENST00000261534.8:c.1968G>T	ENSP00000261534.4:p.Leu656=
ENST00000452340.7:n.2944G>T
ENST00000554767.5:n.2754G>T
ENST00000555710.1:c.329G>T	ENSP00000451730.1:n.329G>T
ENST00000556171.1:c.560G>T
ENST00000556394.1:c.88-285G>T
ENST00000556446.1:n.269G>T
ENST00000602717.5:c.183G>T	ENSP00000487704.1:p.Leu61=
NM_013382.5:c.1968G>T , LRG_844t1:c.1968G>T	NP_037514.2:p.Leu656=
XM_011536675.1:c.2157G>T	XP_011534977.1:p.Leu719=
XM_011536676.1:c.1824G>T	XP_011534978.1:p.Leu608=
XM_011536677.1:c.1698G>T	XP_011534979.1:p.Leu566=
XM_011536679.1:c.1251G>T	XP_011534981.1:p.Leu417=
XR_943416.1:n.2221G>T
XM_011536675.2:c.2157G>T	XP_011534977.1:p.Leu719=
XM_011536676.2:c.1824G>T	XP_011534978.1:p.Leu608=
XM_011536677.3:c.1698G>T	XP_011534979.1:p.Leu566=
XR_001750279.1:n.2254G>T
XR_001750282.1:n.2907G>T
XR_943416.3:n.2219G>T
NM_013382.6:c.1968G>T	NP_037514.2:p.Leu656=
NM_013382.7:c.1968G>T MANE Select	NP_037514.2:p.Leu656=