Canonical Allele Identifier: CA2625846338

Gene: POMT2

Linked Data

• gnomAD v4: 14-77279153-TCA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279155_77279156del , CM000676.2:g.77279155_77279156del	GRCh38
NC_000014.8:g.77745498_77745499del , CM000676.1:g.77745498_77745499del	GRCh37
NC_000014.7:g.76815251_76815252del	NCBI36
NG_008897.1:g.46728_46729del , LRG_844:g.46728_46729del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-286_817-285del
ENST00000556394.2:c.1433-286_1433-285del	ENSP00000451967.2:n.1433-286_1433-285del
ENST00000682128.1:c.193-286_193-285del	ENSP00000506976.1:n.193-286_193-285del
ENST00000682247.1:c.1892-297_1892-296del	ENSP00000507213.1:n.1892-297_1892-296del
ENST00000682395.1:n.2356-286_2356-285del
ENST00000682459.1:n.1595-286_1595-285del
ENST00000682467.1:c.1892-647_1892-646del	ENSP00000508062.1:n.1892-647_1892-646del
ENST00000682615.1:n.246-286_246-285del
ENST00000682795.1:c.2039-286_2039-285del	ENSP00000507574.1:n.2039-286_2039-285del
ENST00000682895.1:n.1608-286_1608-285del
ENST00000682955.1:n.1466-286_1466-285del
ENST00000683095.1:c.298-286_298-285del	ENSP00000508040.1:n.298-286_298-285del
ENST00000683188.1:c.2153-286_2153-285del
ENST00000683380.1:n.1556-286_1556-285del
ENST00000683828.1:c.1601-286_1601-285del
ENST00000683907.1:c.157-286_157-285del	ENSP00000507754.1:n.157-286_157-285del
ENST00000684172.1:c.268-286_268-285del	ENSP00000508391.1:n.268-286_268-285del
ENST00000684259.1:n.3373_3374del
ENST00000684538.1:n.985_986del
ENST00000684549.1:n.1443-286_1443-285del
ENST00000261534.9:c.1892-286_1892-285del MANE Select	ENSP00000261534.4:n.1892-286_1892-285del
ENST00000261534.8:c.1892-286_1892-285del	ENSP00000261534.4:n.1892-286_1892-285del
ENST00000452340.7:n.2582_2583del
ENST00000554767.5:n.2678-286_2678-285del
ENST00000555134.1:n.817-286_817-285del
ENST00000555710.1:c.161-194_161-193del	ENSP00000451730.1:n.161-194_161-193del
ENST00000556171.1:c.484-286_484-285del
ENST00000556394.1:c.88-647_88-646del
ENST00000602717.5:c.107-286_107-285del	ENSP00000487704.1:n.107-286_107-285del
NM_013382.5:c.1892-286_1892-285del , LRG_844t1:c.1892-286_1892-285del	NP_037514.2:n.1892-286_1892-285del
XM_011536675.1:c.2081-286_2081-285del	XP_011534977.1:n.2081-286_2081-285del
XM_011536676.1:c.1748-286_1748-285del	XP_011534978.1:n.1748-286_1748-285del
XM_011536677.1:c.1622-286_1622-285del	XP_011534979.1:n.1622-286_1622-285del
XM_011536678.1:c.*343_*344del	XP_011534980.1:n.*343_*344del
XM_011536679.1:c.1175-286_1175-285del	XP_011534981.1:n.1175-286_1175-285del
XR_943416.1:n.2145-286_2145-285del
XM_011536675.2:c.2081-286_2081-285del	XP_011534977.1:n.2081-286_2081-285del
XM_011536676.2:c.1748-286_1748-285del	XP_011534978.1:n.1748-286_1748-285del
XM_011536677.3:c.1622-286_1622-285del	XP_011534979.1:n.1622-286_1622-285del
XR_001750279.1:n.2178-286_2178-285del
XR_001750282.1:n.2831-286_2831-285del
XR_943416.3:n.2143-286_2143-285del
NM_013382.6:c.1892-286_1892-285del	NP_037514.2:n.1892-286_1892-285del
NM_013382.7:c.1892-286_1892-285del MANE Select	NP_037514.2:n.1892-286_1892-285del