Canonical Allele Identifier: CA2532954772

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306527_77306528del , CM000676.2:g.77306527_77306528del	GRCh38
NC_000014.8:g.77772870_77772871del , CM000676.1:g.77772870_77772871del	GRCh37
NC_000014.7:g.76842623_76842624del	NCBI36
NG_008897.1:g.19357_19358del , LRG_844:g.19357_19358del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1726_249-1725del	ENSP00000451967.2:n.249-1726_249-1725del
ENST00000556880.6:n.267-85_267-84del
ENST00000682247.1:c.334-85_334-84del	ENSP00000507213.1:n.334-85_334-84del
ENST00000682382.1:c.282-85_282-84del
ENST00000682467.1:c.334-85_334-84del	ENSP00000508062.1:n.334-85_334-84del
ENST00000682795.1:c.334-85_334-84del	ENSP00000507574.1:n.334-85_334-84del
ENST00000683188.1:c.129-85_129-84del
ENST00000683828.1:c.203-85_203-84del
ENST00000684066.1:n.29-85_29-84del
ENST00000684102.1:n.80-85_80-84del
ENST00000684259.1:n.185-85_185-84del
ENST00000684600.1:c.148-85_148-84del
ENST00000684746.1:n.31-85_31-84del
ENST00000261534.9:c.334-85_334-84del MANE Select	ENSP00000261534.4:n.334-85_334-84del
ENST00000261534.8:c.334-85_334-84del	ENSP00000261534.4:n.334-85_334-84del
ENST00000452340.7:n.357-85_357-84del
ENST00000554948.1:c.61-85_61-84del	ENSP00000452060.1:n.61-85_61-84del
ENST00000555788.5:n.168-85_168-84del
ENST00000556326.5:c.249-85_249-84del	ENSP00000450630.1:n.249-85_249-84del
ENST00000556880.5:n.267-85_267-84del
ENST00000557525.1:n.424-85_424-84del
NM_013382.5:c.334-85_334-84del , LRG_844t1:c.334-85_334-84del	NP_037514.2:n.334-85_334-84del
XM_011536675.1:c.334-85_334-84del	XP_011534977.1:n.334-85_334-84del
XM_011536676.1:c.1-85_1-84del	XP_011534978.1:n.1-85_1-84del
XM_011536677.1:c.334-85_334-84del	XP_011534979.1:n.334-85_334-84del
XM_011536678.1:c.334-85_334-84del	XP_011534980.1:n.334-85_334-84del
XM_011536680.1:c.334-85_334-84del	XP_011534982.1:n.334-85_334-84del
XR_943416.1:n.537-85_537-84del
XM_011536675.2:c.334-85_334-84del	XP_011534977.1:n.334-85_334-84del
XM_011536676.2:c.1-85_1-84del	XP_011534978.1:n.1-85_1-84del
XM_011536677.3:c.334-85_334-84del	XP_011534979.1:n.334-85_334-84del
XR_001750279.1:n.534-85_534-84del
XR_001750282.1:n.538-85_538-84del
XR_943416.3:n.535-85_535-84del
NM_013382.6:c.334-85_334-84del	NP_037514.2:n.334-85_334-84del
NM_013382.7:c.334-85_334-84del MANE Select	NP_037514.2:n.334-85_334-84del