Canonical Allele Identifier: CA390513708

Gene: POMT2

Linked Data

• ClinVar Variation Id: 1707476
• ClinVar RCV Id: RCV002286444
• MyVariant Identifiers: chr14:g.77745074G>A (hg19) ; chr14:g.77278731G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278731G>A , CM000676.2:g.77278731G>A	GRCh38
NC_000014.8:g.77745074G>A , CM000676.1:g.77745074G>A	GRCh37
NC_000014.7:g.76814827G>A	NCBI36
NG_008897.1:g.47152C>T , LRG_844:g.47152C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.955C>T
ENST00000556394.2:c.1571C>T	ENSP00000451967.2:p.Thr524Ile
ENST00000682128.1:c.331C>T	ENSP00000506976.1:n.331C>T
ENST00000682247.1:c.2019C>T	ENSP00000507213.1:p.Asp673=
ENST00000682395.1:n.2494C>T
ENST00000682459.1:n.1733C>T
ENST00000682467.1:c.1892-223C>T	ENSP00000508062.1:n.1892-223C>T
ENST00000682615.1:n.384C>T
ENST00000682795.1:c.2177C>T	ENSP00000507574.1:p.Thr726Ile
ENST00000682895.1:n.1746C>T
ENST00000682955.1:n.1604C>T
ENST00000683095.1:c.436C>T	ENSP00000508040.1:n.436C>T
ENST00000683188.1:c.2291C>T
ENST00000683380.1:n.1694C>T
ENST00000683907.1:c.295C>T	ENSP00000507754.1:n.295C>T
ENST00000684172.1:c.406C>T	ENSP00000508391.1:n.406C>T
ENST00000684259.1:n.3797C>T
ENST00000684538.1:n.1409C>T
ENST00000684549.1:n.1581C>T
ENST00000261534.9:c.2030C>T MANE Select	ENSP00000261534.4:p.Thr677Ile
ENST00000261534.8:c.2030C>T	ENSP00000261534.4:p.Thr677Ile
ENST00000452340.7:n.3006C>T
ENST00000554767.5:n.2816C>T
ENST00000555710.1:c.391C>T	ENSP00000451730.1:n.391C>T
ENST00000556394.1:c.88-223C>T
ENST00000556446.1:n.331C>T
ENST00000602717.5:c.245C>T	ENSP00000487704.1:p.Thr82Ile
NM_013382.5:c.2030C>T , LRG_844t1:c.2030C>T	NP_037514.2:p.Thr677Ile
XM_011536675.1:c.2219C>T	XP_011534977.1:p.Thr740Ile
XM_011536676.1:c.1886C>T	XP_011534978.1:p.Thr629Ile
XM_011536677.1:c.1760C>T	XP_011534979.1:p.Thr587Ile
XM_011536679.1:c.1313C>T	XP_011534981.1:p.Thr438Ile
XR_943416.1:n.2283C>T
XM_011536675.2:c.2219C>T	XP_011534977.1:p.Thr740Ile
XM_011536676.2:c.1886C>T	XP_011534978.1:p.Thr629Ile
XM_011536677.3:c.1760C>T	XP_011534979.1:p.Thr587Ile
XR_001750279.1:n.2316C>T
XR_001750282.1:n.2969C>T
XR_943416.3:n.2281C>T
NM_013382.6:c.2030C>T	NP_037514.2:p.Thr677Ile
NM_013382.7:c.2030C>T MANE Select	NP_037514.2:p.Thr677Ile