Canonical Allele Identifier: CA390513689

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744849T>A (hg19) ; chr14:g.77278506T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278506T>A , CM000676.2:g.77278506T>A	GRCh38
NC_000014.8:g.77744849T>A , CM000676.1:g.77744849T>A	GRCh37
NC_000014.7:g.76814602T>A	NCBI36
NG_008897.1:g.47377A>T , LRG_844:g.47377A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.960A>T
ENST00000556394.2:c.1576A>T	ENSP00000451967.2:p.Ile526Phe
ENST00000682247.1:c.2024A>T	ENSP00000507213.1:p.His675Leu
ENST00000682395.1:n.2499A>T
ENST00000682459.1:n.1738A>T
ENST00000682467.1:c.1894A>T	ENSP00000508062.1:p.Ile632Phe
ENST00000682795.1:c.2182A>T	ENSP00000507574.1:p.Ile728Phe
ENST00000682895.1:n.1751A>T
ENST00000682955.1:n.1609A>T
ENST00000683188.1:c.2296A>T
ENST00000683380.1:n.1699A>T
ENST00000683907.1:c.300A>T	ENSP00000507754.1:n.300A>T
ENST00000684259.1:n.3802A>T
ENST00000684538.1:n.1414A>T
ENST00000684549.1:n.1586A>T
ENST00000261534.9:c.2035A>T MANE Select	ENSP00000261534.4:p.Ile679Phe
ENST00000261534.8:c.2035A>T	ENSP00000261534.4:p.Ile679Phe
ENST00000452340.7:n.3011A>T
ENST00000554767.5:n.2821A>T
ENST00000555710.1:c.396A>T	ENSP00000451730.1:n.396A>T
ENST00000556394.1:c.90A>T
ENST00000556446.1:n.336A>T
ENST00000602717.5:c.250A>T	ENSP00000487704.1:p.Ile84Phe
NM_013382.5:c.2035A>T , LRG_844t1:c.2035A>T	NP_037514.2:p.Ile679Phe
XM_011536675.1:c.2224A>T	XP_011534977.1:p.Ile742Phe
XM_011536676.1:c.1891A>T	XP_011534978.1:p.Ile631Phe
XM_011536677.1:c.1765A>T	XP_011534979.1:p.Ile589Phe
XM_011536679.1:c.1318A>T	XP_011534981.1:p.Ile440Phe
XR_943416.1:n.2288A>T
XM_011536675.2:c.2224A>T	XP_011534977.1:p.Ile742Phe
XM_011536676.2:c.1891A>T	XP_011534978.1:p.Ile631Phe
XM_011536677.3:c.1765A>T	XP_011534979.1:p.Ile589Phe
XR_001750279.1:n.2321A>T
XR_001750282.1:n.2974A>T
XR_943416.3:n.2286A>T
NM_013382.6:c.2035A>T	NP_037514.2:p.Ile679Phe
NM_013382.7:c.2035A>T MANE Select	NP_037514.2:p.Ile679Phe