Canonical Allele Identifier: CA390513923

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745123G>T (hg19) ; chr14:g.77278780G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278780G>T , CM000676.2:g.77278780G>T	GRCh38
NC_000014.8:g.77745123G>T , CM000676.1:g.77745123G>T	GRCh37
NC_000014.7:g.76814876G>T	NCBI36
NG_008897.1:g.47103C>A , LRG_844:g.47103C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.906C>A
ENST00000556394.2:c.1522C>A	ENSP00000451967.2:p.Leu508Ile
ENST00000682128.1:c.282C>A	ENSP00000506976.1:n.282C>A
ENST00000682247.1:c.1970C>A	ENSP00000507213.1:p.Pro657His
ENST00000682395.1:n.2445C>A
ENST00000682459.1:n.1684C>A
ENST00000682467.1:c.1892-272C>A	ENSP00000508062.1:n.1892-272C>A
ENST00000682615.1:n.335C>A
ENST00000682795.1:c.2128C>A	ENSP00000507574.1:p.Leu710Ile
ENST00000682895.1:n.1697C>A
ENST00000682955.1:n.1555C>A
ENST00000683095.1:c.387C>A	ENSP00000508040.1:n.387C>A
ENST00000683188.1:c.2242C>A
ENST00000683380.1:n.1645C>A
ENST00000683907.1:c.246C>A	ENSP00000507754.1:n.246C>A
ENST00000684172.1:c.357C>A	ENSP00000508391.1:n.357C>A
ENST00000684259.1:n.3748C>A
ENST00000684538.1:n.1360C>A
ENST00000684549.1:n.1532C>A
ENST00000261534.9:c.1981C>A MANE Select	ENSP00000261534.4:p.Leu661Ile
ENST00000261534.8:c.1981C>A	ENSP00000261534.4:p.Leu661Ile
ENST00000452340.7:n.2957C>A
ENST00000554767.5:n.2767C>A
ENST00000555710.1:c.342C>A	ENSP00000451730.1:n.342C>A
ENST00000556171.1:c.573C>A
ENST00000556394.1:c.88-272C>A
ENST00000556446.1:n.282C>A
ENST00000602717.5:c.196C>A	ENSP00000487704.1:p.Leu66Ile
NM_013382.5:c.1981C>A , LRG_844t1:c.1981C>A	NP_037514.2:p.Leu661Ile
XM_011536675.1:c.2170C>A	XP_011534977.1:p.Leu724Ile
XM_011536676.1:c.1837C>A	XP_011534978.1:p.Leu613Ile
XM_011536677.1:c.1711C>A	XP_011534979.1:p.Leu571Ile
XM_011536679.1:c.1264C>A	XP_011534981.1:p.Leu422Ile
XR_943416.1:n.2234C>A
XM_011536675.2:c.2170C>A	XP_011534977.1:p.Leu724Ile
XM_011536676.2:c.1837C>A	XP_011534978.1:p.Leu613Ile
XM_011536677.3:c.1711C>A	XP_011534979.1:p.Leu571Ile
XR_001750279.1:n.2267C>A
XR_001750282.1:n.2920C>A
XR_943416.3:n.2232C>A
NM_013382.6:c.1981C>A	NP_037514.2:p.Leu661Ile
NM_013382.7:c.1981C>A MANE Select	NP_037514.2:p.Leu661Ile