Canonical Allele Identifier: CA7286218

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2924248
• ClinVar RCV Id: RCV003785998
• dbSNP Id: rs747824396
• ExAC: 14:77772800 C / T
• gnomAD v2: 14-77772800-C-T
• gnomAD v4: 14-77306457-C-T
• MyVariant Identifiers: chr14:g.77772800C>T (hg19) ; chr14:g.77306457C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306457C>T , CM000676.2:g.77306457C>T	GRCh38
NC_000014.8:g.77772800C>T , CM000676.1:g.77772800C>T	GRCh37
NC_000014.7:g.76842553C>T	NCBI36
NG_008897.1:g.19426G>A , LRG_844:g.19426G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.47G>A
ENST00000556394.2:c.249-1657G>A	ENSP00000451967.2:n.249-1657G>A
ENST00000556880.6:n.267-16G>A
ENST00000682247.1:c.334-16G>A	ENSP00000507213.1:n.334-16G>A
ENST00000682382.1:c.282-16G>A
ENST00000682395.1:n.47G>A
ENST00000682459.1:n.47G>A
ENST00000682467.1:c.334-16G>A	ENSP00000508062.1:n.334-16G>A
ENST00000682795.1:c.334-16G>A	ENSP00000507574.1:n.334-16G>A
ENST00000682895.1:n.34G>A
ENST00000682955.1:n.47G>A
ENST00000683188.1:c.129-16G>A
ENST00000683380.1:n.47G>A
ENST00000683828.1:c.203-16G>A
ENST00000684066.1:n.29-16G>A
ENST00000684102.1:n.80-16G>A
ENST00000684259.1:n.185-16G>A
ENST00000684549.1:n.47G>A
ENST00000684600.1:c.148-16G>A
ENST00000684746.1:n.31-16G>A
ENST00000261534.9:c.334-16G>A MANE Select	ENSP00000261534.4:n.334-16G>A
ENST00000261534.8:c.334-16G>A	ENSP00000261534.4:n.334-16G>A
ENST00000452340.7:n.357-16G>A
ENST00000553863.5:n.47G>A
ENST00000554948.1:c.61-16G>A	ENSP00000452060.1:n.61-16G>A
ENST00000555675.5:n.34G>A
ENST00000555788.5:n.168-16G>A
ENST00000556326.5:c.249-16G>A	ENSP00000450630.1:n.249-16G>A
ENST00000556880.5:n.267-16G>A
ENST00000557525.1:n.424-16G>A
NM_013382.5:c.334-16G>A , LRG_844t1:c.334-16G>A	NP_037514.2:n.334-16G>A
XM_011536675.1:c.334-16G>A	XP_011534977.1:n.334-16G>A
XM_011536676.1:c.1-16G>A	XP_011534978.1:n.1-16G>A
XM_011536677.1:c.334-16G>A	XP_011534979.1:n.334-16G>A
XM_011536678.1:c.334-16G>A	XP_011534980.1:n.334-16G>A
XM_011536680.1:c.334-16G>A	XP_011534982.1:n.334-16G>A
XR_943416.1:n.537-16G>A
XM_011536675.2:c.334-16G>A	XP_011534977.1:n.334-16G>A
XM_011536676.2:c.1-16G>A	XP_011534978.1:n.1-16G>A
XM_011536677.3:c.334-16G>A	XP_011534979.1:n.334-16G>A
XR_001750279.1:n.534-16G>A
XR_001750282.1:n.538-16G>A
XR_943416.3:n.535-16G>A
NM_013382.6:c.334-16G>A	NP_037514.2:n.334-16G>A
NM_013382.7:c.334-16G>A MANE Select	NP_037514.2:n.334-16G>A