Canonical Allele Identifier: CA2625844380

Gene: POMT2

Linked Data

• gnomAD v4: 14-77287135-T-TCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77287135_77287136insCAG , CM000676.2:g.77287135_77287136insCAG	GRCh38
NC_000014.8:g.77753478_77753479insCAG , CM000676.1:g.77753478_77753479insCAG	GRCh37
NC_000014.7:g.76823231_76823232insCAG	NCBI36
NG_008897.1:g.38747_38748insCTG , LRG_844:g.38747_38748insCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.795-314_795-313insCTG	ENSP00000451967.2:n.795-314_795-313insCTG
ENST00000682247.1:c.1254-314_1254-313insCTG	ENSP00000507213.1:n.1254-314_1254-313insCTG
ENST00000682382.1:c.826-314_826-313insCTG
ENST00000682395.1:n.1118_1119insCTG
ENST00000682459.1:n.956+97_956+98insCTG
ENST00000682467.1:c.1254-314_1254-313insCTG	ENSP00000508062.1:n.1254-314_1254-313insCTG
ENST00000682795.1:c.1254-314_1254-313insCTG	ENSP00000507574.1:n.1254-314_1254-313insCTG
ENST00000682895.1:n.970-314_970-313insCTG
ENST00000682955.1:n.542-314_542-313insCTG
ENST00000683188.1:c.915_916insCTG
ENST00000683328.1:c.247-314_247-313insCTG	ENSP00000508096.1:n.247-314_247-313insCTG
ENST00000683380.1:n.918-314_918-313insCTG
ENST00000683828.1:c.963-314_963-313insCTG
ENST00000684259.1:n.1105-314_1105-313insCTG
ENST00000684549.1:n.805-314_805-313insCTG
ENST00000261534.9:c.1254-314_1254-313insCTG MANE Select	ENSP00000261534.4:n.1254-314_1254-313insCTG
ENST00000261534.8:c.1254-314_1254-313insCTG	ENSP00000261534.4:n.1254-314_1254-313insCTG
ENST00000452340.7:n.1277-314_1277-313insCTG
ENST00000553880.5:n.125-314_125-313insCTG
ENST00000554767.5:n.2040-314_2040-313insCTG
ENST00000554884.5:n.246-314_246-313insCTG
ENST00000556404.1:n.74_75insCTG
ENST00000556851.1:n.289+97_289+98insCTG
ENST00000557675.5:n.344-314_344-313insCTG
NM_013382.5:c.1254-314_1254-313insCTG , LRG_844t1:c.1254-314_1254-313insCTG	NP_037514.2:n.1254-314_1254-313insCTG
XM_011536675.1:c.1254-314_1254-313insCTG	XP_011534977.1:n.1254-314_1254-313insCTG
XM_011536676.1:c.921-314_921-313insCTG	XP_011534978.1:n.921-314_921-313insCTG
XM_011536677.1:c.795-314_795-313insCTG	XP_011534979.1:n.795-314_795-313insCTG
XM_011536678.1:c.1254-314_1254-313insCTG	XP_011534980.1:n.1254-314_1254-313insCTG
XM_011536679.1:c.348-314_348-313insCTG	XP_011534981.1:n.348-314_348-313insCTG
XM_011536680.1:c.*93_*94insCTG	XP_011534982.1:n.*93_*94insCTG
XR_943416.1:n.1457-314_1457-313insCTG
XM_011536675.2:c.1254-314_1254-313insCTG	XP_011534977.1:n.1254-314_1254-313insCTG
XM_011536676.2:c.921-314_921-313insCTG	XP_011534978.1:n.921-314_921-313insCTG
XM_011536677.3:c.795-314_795-313insCTG	XP_011534979.1:n.795-314_795-313insCTG
XR_001750279.1:n.1454-314_1454-313insCTG
XR_001750282.1:n.1593_1594insCTG
XR_943416.3:n.1455-314_1455-313insCTG
NM_013382.6:c.1254-314_1254-313insCTG	NP_037514.2:n.1254-314_1254-313insCTG
NM_013382.7:c.1254-314_1254-313insCTG MANE Select	NP_037514.2:n.1254-314_1254-313insCTG