Canonical Allele Identifier: CA2148327507

Gene: POMT2

Linked Data

• dbSNP Id: rs1890070943

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278520_77278524del , CM000676.2:g.77278520_77278524del	GRCh38
NC_000014.8:g.77744863_77744867del , CM000676.1:g.77744863_77744867del	GRCh37
NC_000014.7:g.76814616_76814620del	NCBI36
NG_008897.1:g.47368_47372del , LRG_844:g.47368_47372del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-7_958-3del
ENST00000556394.2:c.1574-7_1574-3del	ENSP00000451967.2:n.1574-7_1574-3del
ENST00000682247.1:c.2022-7_2022-3del	ENSP00000507213.1:n.2022-7_2022-3del
ENST00000682395.1:n.2497-7_2497-3del
ENST00000682459.1:n.1736-7_1736-3del
ENST00000682467.1:c.1892-7_1892-3del	ENSP00000508062.1:n.1892-7_1892-3del
ENST00000682795.1:c.2180-7_2180-3del	ENSP00000507574.1:n.2180-7_2180-3del
ENST00000682895.1:n.1749-7_1749-3del
ENST00000682955.1:n.1607-7_1607-3del
ENST00000683188.1:c.2294-7_2294-3del
ENST00000683380.1:n.1697-7_1697-3del
ENST00000683907.1:c.298-7_298-3del	ENSP00000507754.1:n.298-7_298-3del
ENST00000684259.1:n.3800-7_3800-3del
ENST00000684538.1:n.1412-7_1412-3del
ENST00000684549.1:n.1584-7_1584-3del
ENST00000261534.9:c.2033-7_2033-3del MANE Select	ENSP00000261534.4:n.2033-7_2033-3del
ENST00000261534.8:c.2033-7_2033-3del	ENSP00000261534.4:n.2033-7_2033-3del
ENST00000452340.7:n.3009-7_3009-3del
ENST00000554767.5:n.2819-7_2819-3del
ENST00000555710.1:c.394-7_394-3del	ENSP00000451730.1:n.394-7_394-3del
ENST00000556394.1:c.88-7_88-3del
ENST00000556446.1:n.334-7_334-3del
ENST00000602717.5:c.248-7_248-3del	ENSP00000487704.1:n.248-7_248-3del
NM_013382.5:c.2033-7_2033-3del , LRG_844t1:c.2033-7_2033-3del	NP_037514.2:n.2033-7_2033-3del
XM_011536675.1:c.2222-7_2222-3del	XP_011534977.1:n.2222-7_2222-3del
XM_011536676.1:c.1889-7_1889-3del	XP_011534978.1:n.1889-7_1889-3del
XM_011536677.1:c.1763-7_1763-3del	XP_011534979.1:n.1763-7_1763-3del
XM_011536679.1:c.1316-7_1316-3del	XP_011534981.1:n.1316-7_1316-3del
XR_943416.1:n.2286-7_2286-3del
XM_011536675.2:c.2222-7_2222-3del	XP_011534977.1:n.2222-7_2222-3del
XM_011536676.2:c.1889-7_1889-3del	XP_011534978.1:n.1889-7_1889-3del
XM_011536677.3:c.1763-7_1763-3del	XP_011534979.1:n.1763-7_1763-3del
XR_001750279.1:n.2319-7_2319-3del
XR_001750282.1:n.2972-7_2972-3del
XR_943416.3:n.2284-7_2284-3del
NM_013382.6:c.2033-7_2033-3del	NP_037514.2:n.2033-7_2033-3del
NM_013382.7:c.2033-7_2033-3del MANE Select	NP_037514.2:n.2033-7_2033-3del