Canonical Allele Identifier: CA2596253196

Gene: POMT2

Linked Data

• dbSNP Id: rs2140189246
• gnomAD v3: 14-77287049-G-GGA
• gnomAD v4: 14-77287049-G-GGA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77287050_77287051dup , CM000676.2:g.77287050_77287051dup	GRCh38
NC_000014.8:g.77753393_77753394dup , CM000676.1:g.77753393_77753394dup	GRCh37
NC_000014.7:g.76823146_76823147dup	NCBI36
NG_008897.1:g.38832_38833dup , LRG_844:g.38832_38833dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.795-229_795-228dup	ENSP00000451967.2:n.795-229_795-228dup
ENST00000682247.1:c.1254-229_1254-228dup	ENSP00000507213.1:n.1254-229_1254-228dup
ENST00000682382.1:c.826-229_826-228dup
ENST00000682395.1:n.1203_1204dup
ENST00000682459.1:n.956+182_956+183dup
ENST00000682467.1:c.1254-229_1254-228dup	ENSP00000508062.1:n.1254-229_1254-228dup
ENST00000682795.1:c.1254-229_1254-228dup	ENSP00000507574.1:n.1254-229_1254-228dup
ENST00000682895.1:n.970-229_970-228dup
ENST00000682955.1:n.542-229_542-228dup
ENST00000683188.1:c.1000_1001dup
ENST00000683328.1:c.247-229_247-228dup	ENSP00000508096.1:n.247-229_247-228dup
ENST00000683380.1:n.918-229_918-228dup
ENST00000683828.1:c.963-229_963-228dup
ENST00000684259.1:n.1105-229_1105-228dup
ENST00000684549.1:n.805-229_805-228dup
ENST00000261534.9:c.1254-229_1254-228dup MANE Select	ENSP00000261534.4:n.1254-229_1254-228dup
ENST00000261534.8:c.1254-229_1254-228dup	ENSP00000261534.4:n.1254-229_1254-228dup
ENST00000452340.7:n.1277-229_1277-228dup
ENST00000553880.5:n.125-229_125-228dup
ENST00000554767.5:n.2040-229_2040-228dup
ENST00000554884.5:n.246-229_246-228dup
ENST00000556404.1:n.159_160dup
ENST00000556851.1:n.289+182_289+183dup
ENST00000557675.5:n.344-229_344-228dup
NM_013382.5:c.1254-229_1254-228dup , LRG_844t1:c.1254-229_1254-228dup	NP_037514.2:n.1254-229_1254-228dup
XM_011536675.1:c.1254-229_1254-228dup	XP_011534977.1:n.1254-229_1254-228dup
XM_011536676.1:c.921-229_921-228dup	XP_011534978.1:n.921-229_921-228dup
XM_011536677.1:c.795-229_795-228dup	XP_011534979.1:n.795-229_795-228dup
XM_011536678.1:c.1254-229_1254-228dup	XP_011534980.1:n.1254-229_1254-228dup
XM_011536679.1:c.348-229_348-228dup	XP_011534981.1:n.348-229_348-228dup
XM_011536680.1:c.*178_*179dup	XP_011534982.1:n.*178_*179dup
XR_943416.1:n.1457-229_1457-228dup
XM_011536675.2:c.1254-229_1254-228dup	XP_011534977.1:n.1254-229_1254-228dup
XM_011536676.2:c.921-229_921-228dup	XP_011534978.1:n.921-229_921-228dup
XM_011536677.3:c.795-229_795-228dup	XP_011534979.1:n.795-229_795-228dup
XR_001750279.1:n.1454-229_1454-228dup
XR_001750282.1:n.1678_1679dup
XR_943416.3:n.1455-229_1455-228dup
NM_013382.6:c.1254-229_1254-228dup	NP_037514.2:n.1254-229_1254-228dup
NM_013382.7:c.1254-229_1254-228dup MANE Select	NP_037514.2:n.1254-229_1254-228dup