Canonical Allele Identifier: CA2625848031

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306695-C-CAGGA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306701_77306704dup , CM000676.2:g.77306701_77306704dup	GRCh38
NC_000014.8:g.77773044_77773047dup , CM000676.1:g.77773044_77773047dup	GRCh37
NC_000014.7:g.76842797_76842800dup	NCBI36
NG_008897.1:g.19184_19187dup , LRG_844:g.19184_19187dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1899_249-1896dup	ENSP00000451967.2:n.249-1899_249-1896dup
ENST00000556880.6:n.199_202dup
ENST00000682247.1:c.334-258_334-255dup	ENSP00000507213.1:n.334-258_334-255dup
ENST00000682382.1:c.282-258_282-255dup
ENST00000682467.1:c.334-258_334-255dup	ENSP00000508062.1:n.334-258_334-255dup
ENST00000682795.1:c.334-258_334-255dup	ENSP00000507574.1:n.334-258_334-255dup
ENST00000683188.1:c.129-258_129-255dup
ENST00000683828.1:c.203-258_203-255dup
ENST00000684066.1:n.29-258_29-255dup
ENST00000684102.1:n.80-258_80-255dup
ENST00000684259.1:n.185-258_185-255dup
ENST00000684600.1:c.148-258_148-255dup
ENST00000684746.1:n.30+192_30+195dup
ENST00000261534.9:c.334-258_334-255dup MANE Select	ENSP00000261534.4:n.334-258_334-255dup
ENST00000261534.8:c.334-258_334-255dup	ENSP00000261534.4:n.334-258_334-255dup
ENST00000452340.7:n.357-258_357-255dup
ENST00000554948.1:c.61-258_61-255dup	ENSP00000452060.1:n.61-258_61-255dup
ENST00000555788.5:n.168-258_168-255dup
ENST00000556326.5:c.249-258_249-255dup	ENSP00000450630.1:n.249-258_249-255dup
ENST00000556880.5:n.199_202dup
ENST00000557525.1:n.424-258_424-255dup
NM_013382.5:c.334-258_334-255dup , LRG_844t1:c.334-258_334-255dup	NP_037514.2:n.334-258_334-255dup
XM_011536675.1:c.334-258_334-255dup	XP_011534977.1:n.334-258_334-255dup
XM_011536676.1:c.1-258_1-255dup	XP_011534978.1:n.1-258_1-255dup
XM_011536677.1:c.334-258_334-255dup	XP_011534979.1:n.334-258_334-255dup
XM_011536678.1:c.334-258_334-255dup	XP_011534980.1:n.334-258_334-255dup
XM_011536680.1:c.334-258_334-255dup	XP_011534982.1:n.334-258_334-255dup
XR_943416.1:n.537-258_537-255dup
XM_011536675.2:c.334-258_334-255dup	XP_011534977.1:n.334-258_334-255dup
XM_011536676.2:c.1-258_1-255dup	XP_011534978.1:n.1-258_1-255dup
XM_011536677.3:c.334-258_334-255dup	XP_011534979.1:n.334-258_334-255dup
XR_001750279.1:n.534-258_534-255dup
XR_001750282.1:n.538-258_538-255dup
XR_943416.3:n.535-258_535-255dup
NM_013382.6:c.334-258_334-255dup	NP_037514.2:n.334-258_334-255dup
NM_013382.7:c.334-258_334-255dup MANE Select	NP_037514.2:n.334-258_334-255dup