Canonical Allele Identifier: CA2625847907

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306569-CCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306570_77306571del , CM000676.2:g.77306570_77306571del	GRCh38
NC_000014.8:g.77772913_77772914del , CM000676.1:g.77772913_77772914del	GRCh37
NC_000014.7:g.76842666_76842667del	NCBI36
NG_008897.1:g.19312_19313del , LRG_844:g.19312_19313del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1771_249-1770del	ENSP00000451967.2:n.249-1771_249-1770del
ENST00000556880.6:n.266+61_266+62del
ENST00000682247.1:c.334-130_334-129del	ENSP00000507213.1:n.334-130_334-129del
ENST00000682382.1:c.282-130_282-129del
ENST00000682467.1:c.334-130_334-129del	ENSP00000508062.1:n.334-130_334-129del
ENST00000682795.1:c.334-130_334-129del	ENSP00000507574.1:n.334-130_334-129del
ENST00000683188.1:c.129-130_129-129del
ENST00000683828.1:c.203-130_203-129del
ENST00000684066.1:n.29-130_29-129del
ENST00000684102.1:n.80-130_80-129del
ENST00000684259.1:n.185-130_185-129del
ENST00000684600.1:c.148-130_148-129del
ENST00000684746.1:n.31-130_31-129del
ENST00000261534.9:c.334-130_334-129del MANE Select	ENSP00000261534.4:n.334-130_334-129del
ENST00000261534.8:c.334-130_334-129del	ENSP00000261534.4:n.334-130_334-129del
ENST00000452340.7:n.357-130_357-129del
ENST00000554948.1:c.61-130_61-129del	ENSP00000452060.1:n.61-130_61-129del
ENST00000555788.5:n.168-130_168-129del
ENST00000556326.5:c.249-130_249-129del	ENSP00000450630.1:n.249-130_249-129del
ENST00000556880.5:n.266+61_266+62del
ENST00000557525.1:n.424-130_424-129del
NM_013382.5:c.334-130_334-129del , LRG_844t1:c.334-130_334-129del	NP_037514.2:n.334-130_334-129del
XM_011536675.1:c.334-130_334-129del	XP_011534977.1:n.334-130_334-129del
XM_011536676.1:c.1-130_1-129del	XP_011534978.1:n.1-130_1-129del
XM_011536677.1:c.334-130_334-129del	XP_011534979.1:n.334-130_334-129del
XM_011536678.1:c.334-130_334-129del	XP_011534980.1:n.334-130_334-129del
XM_011536680.1:c.334-130_334-129del	XP_011534982.1:n.334-130_334-129del
XR_943416.1:n.537-130_537-129del
XM_011536675.2:c.334-130_334-129del	XP_011534977.1:n.334-130_334-129del
XM_011536676.2:c.1-130_1-129del	XP_011534978.1:n.1-130_1-129del
XM_011536677.3:c.334-130_334-129del	XP_011534979.1:n.334-130_334-129del
XR_001750279.1:n.534-130_534-129del
XR_001750282.1:n.538-130_538-129del
XR_943416.3:n.535-130_535-129del
NM_013382.6:c.334-130_334-129del	NP_037514.2:n.334-130_334-129del
NM_013382.7:c.334-130_334-129del MANE Select	NP_037514.2:n.334-130_334-129del