Canonical Allele Identifier: CA390513873

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745113T>A (hg19) ; chr14:g.77278770T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278770T>A , CM000676.2:g.77278770T>A	GRCh38
NC_000014.8:g.77745113T>A , CM000676.1:g.77745113T>A	GRCh37
NC_000014.7:g.76814866T>A	NCBI36
NG_008897.1:g.47113A>T , LRG_844:g.47113A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.916A>T
ENST00000556394.2:c.1532A>T	ENSP00000451967.2:p.His511Leu
ENST00000682128.1:c.292A>T	ENSP00000506976.1:n.292A>T
ENST00000682247.1:c.1980A>T	ENSP00000507213.1:p.Pro660=
ENST00000682395.1:n.2455A>T
ENST00000682459.1:n.1694A>T
ENST00000682467.1:c.1892-262A>T	ENSP00000508062.1:n.1892-262A>T
ENST00000682615.1:n.345A>T
ENST00000682795.1:c.2138A>T	ENSP00000507574.1:p.His713Leu
ENST00000682895.1:n.1707A>T
ENST00000682955.1:n.1565A>T
ENST00000683095.1:c.397A>T	ENSP00000508040.1:n.397A>T
ENST00000683188.1:c.2252A>T
ENST00000683380.1:n.1655A>T
ENST00000683907.1:c.256A>T	ENSP00000507754.1:n.256A>T
ENST00000684172.1:c.367A>T	ENSP00000508391.1:n.367A>T
ENST00000684259.1:n.3758A>T
ENST00000684538.1:n.1370A>T
ENST00000684549.1:n.1542A>T
ENST00000261534.9:c.1991A>T MANE Select	ENSP00000261534.4:p.His664Leu
ENST00000261534.8:c.1991A>T	ENSP00000261534.4:p.His664Leu
ENST00000452340.7:n.2967A>T
ENST00000554767.5:n.2777A>T
ENST00000555710.1:c.352A>T	ENSP00000451730.1:n.352A>T
ENST00000556394.1:c.88-262A>T
ENST00000556446.1:n.292A>T
ENST00000602717.5:c.206A>T	ENSP00000487704.1:p.His69Leu
NM_013382.5:c.1991A>T , LRG_844t1:c.1991A>T	NP_037514.2:p.His664Leu
XM_011536675.1:c.2180A>T	XP_011534977.1:p.His727Leu
XM_011536676.1:c.1847A>T	XP_011534978.1:p.His616Leu
XM_011536677.1:c.1721A>T	XP_011534979.1:p.His574Leu
XM_011536679.1:c.1274A>T	XP_011534981.1:p.His425Leu
XR_943416.1:n.2244A>T
XM_011536675.2:c.2180A>T	XP_011534977.1:p.His727Leu
XM_011536676.2:c.1847A>T	XP_011534978.1:p.His616Leu
XM_011536677.3:c.1721A>T	XP_011534979.1:p.His574Leu
XR_001750279.1:n.2277A>T
XR_001750282.1:n.2930A>T
XR_943416.3:n.2242A>T
NM_013382.6:c.1991A>T	NP_037514.2:p.His664Leu
NM_013382.7:c.1991A>T MANE Select	NP_037514.2:p.His664Leu