Canonical Allele Identifier: CA390513984

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745141A>T (hg19) ; chr14:g.77278798A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278798A>T , CM000676.2:g.77278798A>T	GRCh38
NC_000014.8:g.77745141A>T , CM000676.1:g.77745141A>T	GRCh37
NC_000014.7:g.76814894A>T	NCBI36
NG_008897.1:g.47085T>A , LRG_844:g.47085T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.888T>A
ENST00000556394.2:c.1504T>A	ENSP00000451967.2:p.Phe502Ile
ENST00000682128.1:c.264T>A	ENSP00000506976.1:n.264T>A
ENST00000682247.1:c.1952T>A	ENSP00000507213.1:p.Phe651Tyr
ENST00000682395.1:n.2427T>A
ENST00000682459.1:n.1666T>A
ENST00000682467.1:c.1892-290T>A	ENSP00000508062.1:n.1892-290T>A
ENST00000682615.1:n.317T>A
ENST00000682795.1:c.2110T>A	ENSP00000507574.1:p.Phe704Ile
ENST00000682895.1:n.1679T>A
ENST00000682955.1:n.1537T>A
ENST00000683095.1:c.369T>A	ENSP00000508040.1:n.369T>A
ENST00000683188.1:c.2224T>A
ENST00000683380.1:n.1627T>A
ENST00000683828.1:c.1672T>A
ENST00000683907.1:c.228T>A	ENSP00000507754.1:p.Phe76Leu
ENST00000684172.1:c.339T>A	ENSP00000508391.1:n.339T>A
ENST00000684259.1:n.3730T>A
ENST00000684538.1:n.1342T>A
ENST00000684549.1:n.1514T>A
ENST00000261534.9:c.1963T>A MANE Select	ENSP00000261534.4:p.Phe655Ile
ENST00000261534.8:c.1963T>A	ENSP00000261534.4:p.Phe655Ile
ENST00000452340.7:n.2939T>A
ENST00000554767.5:n.2749T>A
ENST00000555710.1:c.324T>A	ENSP00000451730.1:n.324T>A
ENST00000556171.1:c.555T>A
ENST00000556394.1:c.88-290T>A
ENST00000556446.1:n.264T>A
ENST00000602717.5:c.178T>A	ENSP00000487704.1:p.Phe60Ile
NM_013382.5:c.1963T>A , LRG_844t1:c.1963T>A	NP_037514.2:p.Phe655Ile
XM_011536675.1:c.2152T>A	XP_011534977.1:p.Phe718Ile
XM_011536676.1:c.1819T>A	XP_011534978.1:p.Phe607Ile
XM_011536677.1:c.1693T>A	XP_011534979.1:p.Phe565Ile
XM_011536679.1:c.1246T>A	XP_011534981.1:p.Phe416Ile
XR_943416.1:n.2216T>A
XM_011536675.2:c.2152T>A	XP_011534977.1:p.Phe718Ile
XM_011536676.2:c.1819T>A	XP_011534978.1:p.Phe607Ile
XM_011536677.3:c.1693T>A	XP_011534979.1:p.Phe565Ile
XR_001750279.1:n.2249T>A
XR_001750282.1:n.2902T>A
XR_943416.3:n.2214T>A
NM_013382.6:c.1963T>A	NP_037514.2:p.Phe655Ile
NM_013382.7:c.1963T>A MANE Select	NP_037514.2:p.Phe655Ile