Canonical Allele Identifier: CA2148327506

Gene: POMT2

Linked Data

• dbSNP Id: rs1890070829

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278513_77278514dup , CM000676.2:g.77278513_77278514dup	GRCh38
NC_000014.8:g.77744856_77744857dup , CM000676.1:g.77744856_77744857dup	GRCh37
NC_000014.7:g.76814609_76814610dup	NCBI36
NG_008897.1:g.47371_47372dup , LRG_844:g.47371_47372dup

Transcript Alleles

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