Canonical Allele Identifier: CA390513641
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1186812417

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278493G>A , CM000676.2:g.77278493G>A GRCh38
NC_000014.8:g.77744836G>A , CM000676.1:g.77744836G>A GRCh37
NC_000014.7:g.76814589G>A NCBI36
NG_008897.1:g.47390C>T , LRG_844:g.47390C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.973C>T
ENST00000556394.2:c.1589C>T ENSP00000451967.2:p.Thr530Ile
ENST00000682247.1:c.2037C>T ENSP00000507213.1:p.His679=
ENST00000682395.1:n.2512C>T
ENST00000682459.1:n.1751C>T
ENST00000682467.1:c.1907C>T ENSP00000508062.1:p.Thr636Ile
ENST00000682795.1:c.2195C>T ENSP00000507574.1:p.Thr732Ile
ENST00000682895.1:n.1764C>T
ENST00000682955.1:n.1622C>T
ENST00000683188.1:c.2309C>T
ENST00000683380.1:n.1712C>T
ENST00000683907.1:c.313C>T ENSP00000507754.1:n.313C>T
ENST00000684259.1:n.3815C>T
ENST00000684538.1:n.1427C>T
ENST00000684549.1:n.1599C>T
ENST00000261534.9:c.2048C>T MANE Select ENSP00000261534.4:p.Thr683Ile
ENST00000261534.8:c.2048C>T ENSP00000261534.4:p.Thr683Ile
ENST00000452340.7:n.3024C>T
ENST00000554767.5:n.2834C>T
ENST00000555710.1:c.409C>T ENSP00000451730.1:n.409C>T
ENST00000556394.1:c.103C>T
ENST00000556446.1:n.349C>T
ENST00000602717.5:c.263C>T ENSP00000487704.1:p.Thr88Ile
NM_013382.5:c.2048C>T , LRG_844t1:c.2048C>T NP_037514.2:p.Thr683Ile
XM_011536675.1:c.2237C>T XP_011534977.1:p.Thr746Ile
XM_011536676.1:c.1904C>T XP_011534978.1:p.Thr635Ile
XM_011536677.1:c.1778C>T XP_011534979.1:p.Thr593Ile
XM_011536679.1:c.1331C>T XP_011534981.1:p.Thr444Ile
XR_943416.1:n.2301C>T
XM_011536675.2:c.2237C>T XP_011534977.1:p.Thr746Ile
XM_011536676.2:c.1904C>T XP_011534978.1:p.Thr635Ile
XM_011536677.3:c.1778C>T XP_011534979.1:p.Thr593Ile
XR_001750279.1:n.2334C>T
XR_001750282.1:n.2987C>T
XR_943416.3:n.2299C>T
NM_013382.6:c.2048C>T NP_037514.2:p.Thr683Ile
NM_013382.7:c.2048C>T MANE Select NP_037514.2:p.Thr683Ile