Canonical Allele Identifier: CA615200685

Gene: POMT2

Linked Data

• dbSNP Id: rs1408608735
• gnomAD v2: 14-77764932-C-T
• gnomAD v3: 14-77298589-C-T
• gnomAD v4: 14-77298589-C-T
• MyVariant Identifiers: chr14:g.77764932C>T (hg19) ; chr14:g.77298589C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298589C>T , CM000676.2:g.77298589C>T	GRCh38
NC_000014.8:g.77764932C>T , CM000676.1:g.77764932C>T	GRCh37
NC_000014.7:g.76834685C>T	NCBI36
NG_008897.1:g.27294G>A , LRG_844:g.27294G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.547+100G>A	ENSP00000451967.2:n.547+100G>A
ENST00000557289.2:c.304+100G>A
ENST00000682247.1:c.1006+100G>A	ENSP00000507213.1:n.1006+100G>A
ENST00000682382.1:c.578+100G>A
ENST00000682395.1:n.735+100G>A
ENST00000682459.1:n.670+100G>A
ENST00000682467.1:c.1006+100G>A	ENSP00000508062.1:n.1006+100G>A
ENST00000682795.1:c.1006+100G>A	ENSP00000507574.1:n.1006+100G>A
ENST00000682895.1:n.722+100G>A
ENST00000682955.1:n.294+100G>A
ENST00000683188.1:c.532+100G>A
ENST00000683300.1:c.110-2316G>A	ENSP00000507630.1:n.110-2316G>A
ENST00000683328.1:c.109+6103G>A	ENSP00000508096.1:n.109+6103G>A
ENST00000683380.1:n.670+100G>A
ENST00000683828.1:c.715+100G>A
ENST00000684259.1:n.857+100G>A
ENST00000684549.1:n.557+100G>A
ENST00000684554.1:c.243+100G>A
ENST00000261534.9:c.1006+100G>A MANE Select	ENSP00000261534.4:n.1006+100G>A
ENST00000261534.8:c.1006+100G>A	ENSP00000261534.4:n.1006+100G>A
ENST00000452340.7:n.1029+100G>A
ENST00000554767.5:n.1792+100G>A
ENST00000557289.1:c.245+100G>A	ENSP00000451115.1:n.245+100G>A
NM_013382.5:c.1006+100G>A , LRG_844t1:c.1006+100G>A	NP_037514.2:n.1006+100G>A
XM_011536675.1:c.1006+100G>A	XP_011534977.1:n.1006+100G>A
XM_011536676.1:c.673+100G>A	XP_011534978.1:n.673+100G>A
XM_011536677.1:c.548-2316G>A	XP_011534979.1:n.548-2316G>A
XM_011536678.1:c.1006+100G>A	XP_011534980.1:n.1006+100G>A
XM_011536679.1:c.100+100G>A	XP_011534981.1:n.100+100G>A
XM_011536680.1:c.1006+100G>A	XP_011534982.1:n.1006+100G>A
XR_943416.1:n.1209+100G>A
XM_011536675.2:c.1006+100G>A	XP_011534977.1:n.1006+100G>A
XM_011536676.2:c.673+100G>A	XP_011534978.1:n.673+100G>A
XM_011536677.3:c.548-2316G>A	XP_011534979.1:n.548-2316G>A
XR_001750279.1:n.1206+100G>A
XR_001750282.1:n.1210+100G>A
XR_943416.3:n.1207+100G>A
NM_013382.6:c.1006+100G>A	NP_037514.2:n.1006+100G>A
NM_013382.7:c.1006+100G>A MANE Select	NP_037514.2:n.1006+100G>A