Canonical Allele Identifier: CA390513862

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745110T>A (hg19) ; chr14:g.77278767T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278767T>A , CM000676.2:g.77278767T>A	GRCh38
NC_000014.8:g.77745110T>A , CM000676.1:g.77745110T>A	GRCh37
NC_000014.7:g.76814863T>A	NCBI36
NG_008897.1:g.47116A>T , LRG_844:g.47116A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.919A>T
ENST00000556394.2:c.1535A>T	ENSP00000451967.2:p.His512Leu
ENST00000682128.1:c.295A>T	ENSP00000506976.1:n.295A>T
ENST00000682247.1:c.1983A>T	ENSP00000507213.1:p.Pro661=
ENST00000682395.1:n.2458A>T
ENST00000682459.1:n.1697A>T
ENST00000682467.1:c.1892-259A>T	ENSP00000508062.1:n.1892-259A>T
ENST00000682615.1:n.348A>T
ENST00000682795.1:c.2141A>T	ENSP00000507574.1:p.His714Leu
ENST00000682895.1:n.1710A>T
ENST00000682955.1:n.1568A>T
ENST00000683095.1:c.400A>T	ENSP00000508040.1:n.400A>T
ENST00000683188.1:c.2255A>T
ENST00000683380.1:n.1658A>T
ENST00000683907.1:c.259A>T	ENSP00000507754.1:n.259A>T
ENST00000684172.1:c.370A>T	ENSP00000508391.1:n.370A>T
ENST00000684259.1:n.3761A>T
ENST00000684538.1:n.1373A>T
ENST00000684549.1:n.1545A>T
ENST00000261534.9:c.1994A>T MANE Select	ENSP00000261534.4:p.His665Leu
ENST00000261534.8:c.1994A>T	ENSP00000261534.4:p.His665Leu
ENST00000452340.7:n.2970A>T
ENST00000554767.5:n.2780A>T
ENST00000555710.1:c.355A>T	ENSP00000451730.1:n.355A>T
ENST00000556394.1:c.88-259A>T
ENST00000556446.1:n.295A>T
ENST00000602717.5:c.209A>T	ENSP00000487704.1:p.His70Leu
NM_013382.5:c.1994A>T , LRG_844t1:c.1994A>T	NP_037514.2:p.His665Leu
XM_011536675.1:c.2183A>T	XP_011534977.1:p.His728Leu
XM_011536676.1:c.1850A>T	XP_011534978.1:p.His617Leu
XM_011536677.1:c.1724A>T	XP_011534979.1:p.His575Leu
XM_011536679.1:c.1277A>T	XP_011534981.1:p.His426Leu
XR_943416.1:n.2247A>T
XM_011536675.2:c.2183A>T	XP_011534977.1:p.His728Leu
XM_011536676.2:c.1850A>T	XP_011534978.1:p.His617Leu
XM_011536677.3:c.1724A>T	XP_011534979.1:p.His575Leu
XR_001750279.1:n.2280A>T
XR_001750282.1:n.2933A>T
XR_943416.3:n.2245A>T
NM_013382.6:c.1994A>T	NP_037514.2:p.His665Leu
NM_013382.7:c.1994A>T MANE Select	NP_037514.2:p.His665Leu