Canonical Allele Identifier: CA2625845394

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278538-G-GCCA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278539_77278541dup , CM000676.2:g.77278539_77278541dup	GRCh38
NC_000014.8:g.77744882_77744884dup , CM000676.1:g.77744882_77744884dup	GRCh37
NC_000014.7:g.76814635_76814637dup	NCBI36
NG_008897.1:g.47342_47344dup , LRG_844:g.47342_47344dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-33_958-31dup
ENST00000556394.2:c.1574-33_1574-31dup	ENSP00000451967.2:n.1574-33_1574-31dup
ENST00000682247.1:c.2022-33_2022-31dup	ENSP00000507213.1:n.2022-33_2022-31dup
ENST00000682395.1:n.2497-33_2497-31dup
ENST00000682459.1:n.1736-33_1736-31dup
ENST00000682467.1:c.1892-33_1892-31dup	ENSP00000508062.1:n.1892-33_1892-31dup
ENST00000682795.1:c.2180-33_2180-31dup	ENSP00000507574.1:n.2180-33_2180-31dup
ENST00000682895.1:n.1749-33_1749-31dup
ENST00000682955.1:n.1607-33_1607-31dup
ENST00000683188.1:c.2294-33_2294-31dup
ENST00000683380.1:n.1697-33_1697-31dup
ENST00000683907.1:c.298-33_298-31dup	ENSP00000507754.1:n.298-33_298-31dup
ENST00000684259.1:n.3800-33_3800-31dup
ENST00000684538.1:n.1412-33_1412-31dup
ENST00000684549.1:n.1584-33_1584-31dup
ENST00000261534.9:c.2033-33_2033-31dup MANE Select	ENSP00000261534.4:n.2033-33_2033-31dup
ENST00000261534.8:c.2033-33_2033-31dup	ENSP00000261534.4:n.2033-33_2033-31dup
ENST00000452340.7:n.3009-33_3009-31dup
ENST00000554767.5:n.2819-33_2819-31dup
ENST00000555710.1:c.394-33_394-31dup	ENSP00000451730.1:n.394-33_394-31dup
ENST00000556394.1:c.88-33_88-31dup
ENST00000556446.1:n.334-33_334-31dup
ENST00000602717.5:c.248-33_248-31dup	ENSP00000487704.1:n.248-33_248-31dup
NM_013382.5:c.2033-33_2033-31dup , LRG_844t1:c.2033-33_2033-31dup	NP_037514.2:n.2033-33_2033-31dup
XM_011536675.1:c.2222-33_2222-31dup	XP_011534977.1:n.2222-33_2222-31dup
XM_011536676.1:c.1889-33_1889-31dup	XP_011534978.1:n.1889-33_1889-31dup
XM_011536677.1:c.1763-33_1763-31dup	XP_011534979.1:n.1763-33_1763-31dup
XM_011536679.1:c.1316-33_1316-31dup	XP_011534981.1:n.1316-33_1316-31dup
XR_943416.1:n.2286-33_2286-31dup
XM_011536675.2:c.2222-33_2222-31dup	XP_011534977.1:n.2222-33_2222-31dup
XM_011536676.2:c.1889-33_1889-31dup	XP_011534978.1:n.1889-33_1889-31dup
XM_011536677.3:c.1763-33_1763-31dup	XP_011534979.1:n.1763-33_1763-31dup
XR_001750279.1:n.2319-33_2319-31dup
XR_001750282.1:n.2972-33_2972-31dup
XR_943416.3:n.2284-33_2284-31dup
NM_013382.6:c.2033-33_2033-31dup	NP_037514.2:n.2033-33_2033-31dup
NM_013382.7:c.2033-33_2033-31dup MANE Select	NP_037514.2:n.2033-33_2033-31dup