Canonical Allele Identifier: CA2575587528

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278468-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278472del , CM000676.2:g.77278472del	GRCh38
NC_000014.8:g.77744815del , CM000676.1:g.77744815del	GRCh37
NC_000014.7:g.76814568del	NCBI36
NG_008897.1:g.47414del , LRG_844:g.47414del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.997del
ENST00000556394.2:c.1613del	ENSP00000451967.2:p.Gly538AlafsTer17
ENST00000682247.1:c.2061del	ENSP00000507213.1:p.Gly689AlafsTer?
ENST00000682395.1:n.2536del
ENST00000682459.1:n.1775del
ENST00000682467.1:c.1931del	ENSP00000508062.1:p.Gly644AlafsTer17
ENST00000682795.1:c.2219del	ENSP00000507574.1:p.Gly740AlafsTer17
ENST00000682895.1:n.1788del
ENST00000682955.1:n.1646del
ENST00000683188.1:c.2333del
ENST00000683380.1:n.1736del
ENST00000683907.1:c.337del	ENSP00000507754.1:n.337del
ENST00000684259.1:n.3839del
ENST00000684538.1:n.1451del
ENST00000684549.1:n.1623del
ENST00000261534.9:c.2072del MANE Select	ENSP00000261534.4:p.Gly691AlafsTer17
ENST00000261534.8:c.2072del	ENSP00000261534.4:p.Gly691AlafsTer17
ENST00000452340.7:n.3048del
ENST00000554767.5:n.2858del
ENST00000555710.1:c.433del	ENSP00000451730.1:n.433del
ENST00000556394.1:c.127del
ENST00000556446.1:n.373del
ENST00000602717.5:c.287del	ENSP00000487704.1:p.Gly96AlafsTer17
NM_013382.5:c.2072del , LRG_844t1:c.2072del	NP_037514.2:p.Gly691AlafsTer17
XM_011536675.1:c.2261del	XP_011534977.1:p.Gly754AlafsTer17
XM_011536676.1:c.1928del	XP_011534978.1:p.Gly643AlafsTer17
XM_011536677.1:c.1802del	XP_011534979.1:p.Gly601AlafsTer17
XM_011536679.1:c.1355del	XP_011534981.1:p.Gly452AlafsTer17
XR_943416.1:n.2325del
XM_011536675.2:c.2261del	XP_011534977.1:p.Gly754AlafsTer17
XM_011536676.2:c.1928del	XP_011534978.1:p.Gly643AlafsTer17
XM_011536677.3:c.1802del	XP_011534979.1:p.Gly601AlafsTer17
XR_001750279.1:n.2358del
XR_001750282.1:n.3011del
XR_943416.3:n.2323del
NM_013382.6:c.2072del	NP_037514.2:p.Gly691AlafsTer17
NM_013382.7:c.2072del MANE Select	NP_037514.2:p.Gly691AlafsTer17