Canonical Allele Identifier: CA891844485

Gene: POMT2

Linked Data

• ClinVar Variation Id: 566152
• ClinVar RCV Id: RCV000685895 ; RCV003133506
• dbSNP Id: rs1566642523

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278455_77278456delinsAA , CM000676.2:g.77278455_77278456delinsAA	GRCh38
NC_000014.8:g.77744798_77744799delinsAA , CM000676.1:g.77744798_77744799delinsAA	GRCh37
NC_000014.7:g.76814551_76814552delinsAA	NCBI36
NG_008897.1:g.47427_47428delinsTT , LRG_844:g.47427_47428delinsTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1010_1011delinsTT
ENST00000556394.2:c.1626_1627delinsTT	ENSP00000451967.2:p.Trp542_Pro543delinsCysSer
ENST00000682247.1:c.2074_2075delinsTT	ENSP00000507213.1:p.Ala692Phe
ENST00000682395.1:n.2549_2550delinsTT
ENST00000682459.1:n.1788_1789delinsTT
ENST00000682467.1:c.1944_1945delinsTT	ENSP00000508062.1:p.Trp648_Pro649delinsCysSer
ENST00000682795.1:c.2232_2233delinsTT	ENSP00000507574.1:p.Trp744_Pro745delinsCysSer
ENST00000682895.1:n.1801_1802delinsTT
ENST00000682955.1:n.1659_1660delinsTT
ENST00000683188.1:c.2346_2347delinsTT
ENST00000683380.1:n.1749_1750delinsTT
ENST00000683907.1:c.350_351delinsTT	ENSP00000507754.1:n.350_351delinsTT
ENST00000684259.1:n.3852_3853delinsTT
ENST00000684538.1:n.1464_1465delinsTT
ENST00000684549.1:n.1636_1637delinsTT
ENST00000261534.9:c.2085_2086delinsTT MANE Select	ENSP00000261534.4:p.Trp695_Pro696delinsCysSer
ENST00000261534.8:c.2085_2086delinsTT	ENSP00000261534.4:p.Trp695_Pro696delinsCysSer
ENST00000452340.7:n.3061_3062delinsTT
ENST00000554767.5:n.2871_2872delinsTT
ENST00000555710.1:c.446_447delinsTT	ENSP00000451730.1:n.446_447delinsTT
ENST00000556394.1:c.140_141delinsTT
ENST00000556446.1:n.386_387delinsTT
ENST00000602717.5:c.300_301delinsTT	ENSP00000487704.1:p.Trp100_Pro101delinsCysSer
NM_013382.5:c.2085_2086delinsTT , LRG_844t1:c.2085_2086delinsTT	NP_037514.2:p.Trp695_Pro696delinsCysSer
XM_011536675.1:c.2274_2275delinsTT	XP_011534977.1:p.Trp758_Pro759delinsCysSer
XM_011536676.1:c.1941_1942delinsTT	XP_011534978.1:p.Trp647_Pro648delinsCysSer
XM_011536677.1:c.1815_1816delinsTT	XP_011534979.1:p.Trp605_Pro606delinsCysSer
XM_011536679.1:c.1368_1369delinsTT	XP_011534981.1:p.Trp456_Pro457delinsCysSer
XR_943416.1:n.2338_2339delinsTT
XM_011536675.2:c.2274_2275delinsTT	XP_011534977.1:p.Trp758_Pro759delinsCysSer
XM_011536676.2:c.1941_1942delinsTT	XP_011534978.1:p.Trp647_Pro648delinsCysSer
XM_011536677.3:c.1815_1816delinsTT	XP_011534979.1:p.Trp605_Pro606delinsCysSer
XR_001750279.1:n.2371_2372delinsTT
XR_001750282.1:n.3024_3025delinsTT
XR_943416.3:n.2336_2337delinsTT
NM_013382.6:c.2085_2086delinsTT	NP_037514.2:p.Trp695_Pro696delinsCysSer
NM_013382.7:c.2085_2086delinsTT MANE Select	NP_037514.2:p.Trp695_Pro696delinsCysSer