Canonical Allele Identifier: CA2625845459

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278612-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278612_77278613insT , CM000676.2:g.77278612_77278613insT	GRCh38
NC_000014.8:g.77744955_77744956insT , CM000676.1:g.77744955_77744956insT	GRCh37
NC_000014.7:g.76814708_76814709insT	NCBI36
NG_008897.1:g.47270_47271insA , LRG_844:g.47270_47271insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-105_958-104insA
ENST00000556394.2:c.1574-105_1574-104insA	ENSP00000451967.2:n.1574-105_1574-104insA
ENST00000682247.1:c.2022-105_2022-104insA	ENSP00000507213.1:n.2022-105_2022-104insA
ENST00000682395.1:n.2497-105_2497-104insA
ENST00000682459.1:n.1736-105_1736-104insA
ENST00000682467.1:c.1892-105_1892-104insA	ENSP00000508062.1:n.1892-105_1892-104insA
ENST00000682795.1:c.2180-105_2180-104insA	ENSP00000507574.1:n.2180-105_2180-104insA
ENST00000682895.1:n.1749-105_1749-104insA
ENST00000682955.1:n.1607-105_1607-104insA
ENST00000683188.1:c.2294-105_2294-104insA
ENST00000683380.1:n.1697-105_1697-104insA
ENST00000683907.1:c.298-105_298-104insA	ENSP00000507754.1:n.298-105_298-104insA
ENST00000684259.1:n.3800-105_3800-104insA
ENST00000684538.1:n.1412-105_1412-104insA
ENST00000684549.1:n.1584-105_1584-104insA
ENST00000261534.9:c.2033-105_2033-104insA MANE Select	ENSP00000261534.4:n.2033-105_2033-104insA
ENST00000261534.8:c.2033-105_2033-104insA	ENSP00000261534.4:n.2033-105_2033-104insA
ENST00000452340.7:n.3009-105_3009-104insA
ENST00000554767.5:n.2819-105_2819-104insA
ENST00000555710.1:c.394-105_394-104insA	ENSP00000451730.1:n.394-105_394-104insA
ENST00000556394.1:c.88-105_88-104insA
ENST00000556446.1:n.334-105_334-104insA
ENST00000602717.5:c.248-105_248-104insA	ENSP00000487704.1:n.248-105_248-104insA
NM_013382.5:c.2033-105_2033-104insA , LRG_844t1:c.2033-105_2033-104insA	NP_037514.2:n.2033-105_2033-104insA
XM_011536675.1:c.2222-105_2222-104insA	XP_011534977.1:n.2222-105_2222-104insA
XM_011536676.1:c.1889-105_1889-104insA	XP_011534978.1:n.1889-105_1889-104insA
XM_011536677.1:c.1763-105_1763-104insA	XP_011534979.1:n.1763-105_1763-104insA
XM_011536679.1:c.1316-105_1316-104insA	XP_011534981.1:n.1316-105_1316-104insA
XR_943416.1:n.2286-105_2286-104insA
XM_011536675.2:c.2222-105_2222-104insA	XP_011534977.1:n.2222-105_2222-104insA
XM_011536676.2:c.1889-105_1889-104insA	XP_011534978.1:n.1889-105_1889-104insA
XM_011536677.3:c.1763-105_1763-104insA	XP_011534979.1:n.1763-105_1763-104insA
XR_001750279.1:n.2319-105_2319-104insA
XR_001750282.1:n.2972-105_2972-104insA
XR_943416.3:n.2284-105_2284-104insA
NM_013382.6:c.2033-105_2033-104insA	NP_037514.2:n.2033-105_2033-104insA
NM_013382.7:c.2033-105_2033-104insA MANE Select	NP_037514.2:n.2033-105_2033-104insA