Canonical Allele Identifier: CA708721488

Gene: POMT2

Linked Data

• dbSNP Id: rs1347310203
• gnomAD v3: 14-77300980-C-T
• gnomAD v4: 14-77300980-C-T
• MyVariant Identifiers: chr14:g.77767323C>T (hg19) ; chr14:g.77300980C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77300980C>T , CM000676.2:g.77300980C>T	GRCh38
NC_000014.8:g.77767323C>T , CM000676.1:g.77767323C>T	GRCh37
NC_000014.7:g.76837076C>T	NCBI36
NG_008897.1:g.24903G>A , LRG_844:g.24903G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.269+110G>A	ENSP00000508202.1:n.269+110G>A
ENST00000556394.2:c.358-1419G>A	ENSP00000451967.2:n.358-1419G>A
ENST00000557289.2:c.160+110G>A
ENST00000682247.1:c.816+110G>A	ENSP00000507213.1:n.816+110G>A
ENST00000682382.1:c.496-2209G>A
ENST00000682395.1:n.545+110G>A
ENST00000682459.1:n.480+110G>A
ENST00000682467.1:c.816+110G>A	ENSP00000508062.1:n.816+110G>A
ENST00000682795.1:c.816+110G>A	ENSP00000507574.1:n.816+110G>A
ENST00000682895.1:n.532+110G>A
ENST00000682955.1:n.212-2209G>A
ENST00000683167.1:c.160+110G>A
ENST00000683188.1:c.343-1419G>A
ENST00000683300.1:c.109+3712G>A	ENSP00000507630.1:n.109+3712G>A
ENST00000683328.1:c.109+3712G>A	ENSP00000508096.1:n.109+3712G>A
ENST00000683380.1:n.480+110G>A
ENST00000683398.1:c.182G>A
ENST00000683551.1:c.109+1855G>A
ENST00000683828.1:c.526-1419G>A
ENST00000684259.1:n.667+110G>A
ENST00000684549.1:n.368-1419G>A
ENST00000684554.1:c.160+110G>A
ENST00000261534.9:c.816+110G>A MANE Select	ENSP00000261534.4:n.816+110G>A
ENST00000261534.8:c.816+110G>A	ENSP00000261534.4:n.816+110G>A
ENST00000452340.7:n.839+110G>A
ENST00000553863.5:n.480+110G>A
ENST00000554767.5:n.184G>A
ENST00000556326.5:c.*482+110G>A	ENSP00000450630.1:n.*482+110G>A
ENST00000557289.1:c.56-1419G>A	ENSP00000451115.1:n.56-1419G>A
NM_013382.5:c.816+110G>A , LRG_844t1:c.816+110G>A	NP_037514.2:n.816+110G>A
XM_011536675.1:c.816+110G>A	XP_011534977.1:n.816+110G>A
XM_011536676.1:c.483+110G>A	XP_011534978.1:n.483+110G>A
XM_011536677.1:c.547+3712G>A	XP_011534979.1:n.547+3712G>A
XM_011536678.1:c.816+110G>A	XP_011534980.1:n.816+110G>A
XM_011536679.1:c.-90-1419G>A	XP_011534981.1:n.-90-1419G>A
XM_011536680.1:c.816+110G>A	XP_011534982.1:n.816+110G>A
XR_943416.1:n.1019+110G>A
XM_011536675.2:c.816+110G>A	XP_011534977.1:n.816+110G>A
XM_011536676.2:c.483+110G>A	XP_011534978.1:n.483+110G>A
XM_011536677.3:c.547+3712G>A	XP_011534979.1:n.547+3712G>A
XR_001750279.1:n.1016+110G>A
XR_001750282.1:n.1020+110G>A
XR_943416.3:n.1017+110G>A
NM_013382.6:c.816+110G>A	NP_037514.2:n.816+110G>A
NM_013382.7:c.816+110G>A MANE Select	NP_037514.2:n.816+110G>A