Canonical Allele Identifier: CA708724304

Gene: POMT2

Linked Data

• dbSNP Id: rs1416861646
• gnomAD v3: 14-77306571-A-AAT
• gnomAD v4: 14-77306571-A-AAT
• MyVariant Identifiers: chr14:g.77772914_77772915insAT (hg19) ; chr14:g.77306571_77306572insAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306572_77306573dup , CM000676.2:g.77306572_77306573dup	GRCh38
NC_000014.8:g.77772915_77772916dup , CM000676.1:g.77772915_77772916dup	GRCh37
NC_000014.7:g.76842668_76842669dup	NCBI36
NG_008897.1:g.19310_19311dup , LRG_844:g.19310_19311dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1773_249-1772dup	ENSP00000451967.2:n.249-1773_249-1772dup
ENST00000556880.6:n.266+59_266+60dup
ENST00000682247.1:c.334-132_334-131dup	ENSP00000507213.1:n.334-132_334-131dup
ENST00000682382.1:c.282-132_282-131dup
ENST00000682467.1:c.334-132_334-131dup	ENSP00000508062.1:n.334-132_334-131dup
ENST00000682795.1:c.334-132_334-131dup	ENSP00000507574.1:n.334-132_334-131dup
ENST00000683188.1:c.129-132_129-131dup
ENST00000683828.1:c.203-132_203-131dup
ENST00000684066.1:n.29-132_29-131dup
ENST00000684102.1:n.80-132_80-131dup
ENST00000684259.1:n.185-132_185-131dup
ENST00000684600.1:c.148-132_148-131dup
ENST00000684746.1:n.31-132_31-131dup
ENST00000261534.9:c.334-132_334-131dup MANE Select	ENSP00000261534.4:n.334-132_334-131dup
ENST00000261534.8:c.334-132_334-131dup	ENSP00000261534.4:n.334-132_334-131dup
ENST00000452340.7:n.357-132_357-131dup
ENST00000554948.1:c.61-132_61-131dup	ENSP00000452060.1:n.61-132_61-131dup
ENST00000555788.5:n.168-132_168-131dup
ENST00000556326.5:c.249-132_249-131dup	ENSP00000450630.1:n.249-132_249-131dup
ENST00000556880.5:n.266+59_266+60dup
ENST00000557525.1:n.424-132_424-131dup
NM_013382.5:c.334-132_334-131dup , LRG_844t1:c.334-132_334-131dup	NP_037514.2:n.334-132_334-131dup
XM_011536675.1:c.334-132_334-131dup	XP_011534977.1:n.334-132_334-131dup
XM_011536676.1:c.1-132_1-131dup	XP_011534978.1:n.1-132_1-131dup
XM_011536677.1:c.334-132_334-131dup	XP_011534979.1:n.334-132_334-131dup
XM_011536678.1:c.334-132_334-131dup	XP_011534980.1:n.334-132_334-131dup
XM_011536680.1:c.334-132_334-131dup	XP_011534982.1:n.334-132_334-131dup
XR_943416.1:n.537-132_537-131dup
XM_011536675.2:c.334-132_334-131dup	XP_011534977.1:n.334-132_334-131dup
XM_011536676.2:c.1-132_1-131dup	XP_011534978.1:n.1-132_1-131dup
XM_011536677.3:c.334-132_334-131dup	XP_011534979.1:n.334-132_334-131dup
XR_001750279.1:n.534-132_534-131dup
XR_001750282.1:n.538-132_538-131dup
XR_943416.3:n.535-132_535-131dup
NM_013382.6:c.334-132_334-131dup	NP_037514.2:n.334-132_334-131dup
NM_013382.7:c.334-132_334-131dup MANE Select	NP_037514.2:n.334-132_334-131dup