Canonical Allele Identifier: CA390517806

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2678036
• ClinVar RCV Id: RCV003472513 ; RCV003779076
• gnomAD v4: 14-77286824-T-C
• MyVariant Identifiers: chr14:g.77753167T>C (hg19) ; chr14:g.77286824T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286824T>C , CM000676.2:g.77286824T>C	GRCh38
NC_000014.8:g.77753167T>C , CM000676.1:g.77753167T>C	GRCh37
NC_000014.7:g.76822920T>C	NCBI36
NG_008897.1:g.39059A>G , LRG_844:g.39059A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.795-2A>G	ENSP00000451967.2:n.795-2A>G
ENST00000682247.1:c.1254-2A>G	ENSP00000507213.1:n.1254-2A>G
ENST00000682382.1:c.826-2A>G
ENST00000682395.1:n.1430A>G
ENST00000682459.1:n.957-2A>G
ENST00000682467.1:c.1254-2A>G	ENSP00000508062.1:n.1254-2A>G
ENST00000682706.1:n.31-2A>G
ENST00000682795.1:c.1254-2A>G	ENSP00000507574.1:n.1254-2A>G
ENST00000682895.1:n.970-2A>G
ENST00000682955.1:n.542-2A>G
ENST00000683188.1:c.1227A>G
ENST00000683328.1:c.247-2A>G	ENSP00000508096.1:n.247-2A>G
ENST00000683380.1:n.918-2A>G
ENST00000683828.1:c.963-2A>G
ENST00000684259.1:n.1105-2A>G
ENST00000684549.1:n.805-2A>G
ENST00000261534.9:c.1254-2A>G MANE Select	ENSP00000261534.4:n.1254-2A>G
ENST00000261534.8:c.1254-2A>G	ENSP00000261534.4:n.1254-2A>G
ENST00000452340.7:n.1277-2A>G
ENST00000553880.5:n.125-2A>G
ENST00000554767.5:n.2040-2A>G
ENST00000554884.5:n.246-2A>G
ENST00000556404.1:n.386A>G
ENST00000556851.1:n.290-2A>G
ENST00000557675.5:n.344-2A>G
NM_013382.5:c.1254-2A>G , LRG_844t1:c.1254-2A>G	NP_037514.2:n.1254-2A>G
XM_011536675.1:c.1254-2A>G	XP_011534977.1:n.1254-2A>G
XM_011536676.1:c.921-2A>G	XP_011534978.1:n.921-2A>G
XM_011536677.1:c.795-2A>G	XP_011534979.1:n.795-2A>G
XM_011536678.1:c.1254-2A>G	XP_011534980.1:n.1254-2A>G
XM_011536679.1:c.348-2A>G	XP_011534981.1:n.348-2A>G
XR_943416.1:n.1457-2A>G
XM_011536675.2:c.1254-2A>G	XP_011534977.1:n.1254-2A>G
XM_011536676.2:c.921-2A>G	XP_011534978.1:n.921-2A>G
XM_011536677.3:c.795-2A>G	XP_011534979.1:n.795-2A>G
XR_001750279.1:n.1454-2A>G
XR_001750282.1:n.1905A>G
XR_943416.3:n.1455-2A>G
NM_013382.6:c.1254-2A>G	NP_037514.2:n.1254-2A>G
NM_013382.7:c.1254-2A>G MANE Select	NP_037514.2:n.1254-2A>G