Canonical Allele Identifier: CA615201288

Gene: POMT2

Linked Data

• dbSNP Id: rs1395552776
• gnomAD v2: 14-77773015-A-AGGAACAGCACAACCTAAACAC
• gnomAD v3: 14-77306672-A-AGGAACAGCACAACCTAAACAC
• gnomAD v4: 14-77306672-A-AGGAACAGCACAACCTAAACAC
• MyVariant Identifiers: chr14:g.77773015_77773016insGGAACAGCACAACCTAAACAC (hg19) ; chr14:g.77306672_77306673insGGAACAGCACAACCTAAACAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306673_77306693dup , CM000676.2:g.77306673_77306693dup	GRCh38
NC_000014.8:g.77773016_77773036dup , CM000676.1:g.77773016_77773036dup	GRCh37
NC_000014.7:g.76842769_76842789dup	NCBI36
NG_008897.1:g.19190_19210dup , LRG_844:g.19190_19210dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1893_249-1873dup	ENSP00000451967.2:n.249-1893_249-1873dup
ENST00000556880.6:n.205_225dup
ENST00000682247.1:c.334-252_334-232dup	ENSP00000507213.1:n.334-252_334-232dup
ENST00000682382.1:c.282-252_282-232dup
ENST00000682467.1:c.334-252_334-232dup	ENSP00000508062.1:n.334-252_334-232dup
ENST00000682795.1:c.334-252_334-232dup	ENSP00000507574.1:n.334-252_334-232dup
ENST00000683188.1:c.129-252_129-232dup
ENST00000683828.1:c.203-252_203-232dup
ENST00000684066.1:n.29-252_29-232dup
ENST00000684102.1:n.80-252_80-232dup
ENST00000684259.1:n.185-252_185-232dup
ENST00000684600.1:c.148-252_148-232dup
ENST00000684746.1:n.30+198_30+218dup
ENST00000261534.9:c.334-252_334-232dup MANE Select	ENSP00000261534.4:n.334-252_334-232dup
ENST00000261534.8:c.334-252_334-232dup	ENSP00000261534.4:n.334-252_334-232dup
ENST00000452340.7:n.357-252_357-232dup
ENST00000554948.1:c.61-252_61-232dup	ENSP00000452060.1:n.61-252_61-232dup
ENST00000555788.5:n.168-252_168-232dup
ENST00000556326.5:c.249-252_249-232dup	ENSP00000450630.1:n.249-252_249-232dup
ENST00000556880.5:n.205_225dup
ENST00000557525.1:n.424-252_424-232dup
NM_013382.5:c.334-252_334-232dup , LRG_844t1:c.334-252_334-232dup	NP_037514.2:n.334-252_334-232dup
XM_011536675.1:c.334-252_334-232dup	XP_011534977.1:n.334-252_334-232dup
XM_011536676.1:c.1-252_1-232dup	XP_011534978.1:n.1-252_1-232dup
XM_011536677.1:c.334-252_334-232dup	XP_011534979.1:n.334-252_334-232dup
XM_011536678.1:c.334-252_334-232dup	XP_011534980.1:n.334-252_334-232dup
XM_011536680.1:c.334-252_334-232dup	XP_011534982.1:n.334-252_334-232dup
XR_943416.1:n.537-252_537-232dup
XM_011536675.2:c.334-252_334-232dup	XP_011534977.1:n.334-252_334-232dup
XM_011536676.2:c.1-252_1-232dup	XP_011534978.1:n.1-252_1-232dup
XM_011536677.3:c.334-252_334-232dup	XP_011534979.1:n.334-252_334-232dup
XR_001750279.1:n.534-252_534-232dup
XR_001750282.1:n.538-252_538-232dup
XR_943416.3:n.535-252_535-232dup
NM_013382.6:c.334-252_334-232dup	NP_037514.2:n.334-252_334-232dup
NM_013382.7:c.334-252_334-232dup MANE Select	NP_037514.2:n.334-252_334-232dup