Canonical Allele Identifier: CA7286226

Gene: POMT2

Linked Data

• ClinVar Variation Id: 260300
• ClinVar RCV Id: RCV000252701 ; RCV000826806
• dbSNP Id: rs66502123
• ExAC: 14:77772829 A / G
• gnomAD v2: 14-77772829-A-G
• gnomAD v3: 14-77306486-A-G
• gnomAD v4: 14-77306486-A-G
• MyVariant Identifiers: chr14:g.77772829A>G (hg19) ; chr14:g.77306486A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306486A>G , CM000676.2:g.77306486A>G	GRCh38
NC_000014.8:g.77772829A>G , CM000676.1:g.77772829A>G	GRCh37
NC_000014.7:g.76842582A>G	NCBI36
NG_008897.1:g.19397T>C , LRG_844:g.19397T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.18T>C
ENST00000556394.2:c.249-1686T>C	ENSP00000451967.2:n.249-1686T>C
ENST00000556880.6:n.267-45T>C
ENST00000682247.1:c.334-45T>C	ENSP00000507213.1:n.334-45T>C
ENST00000682382.1:c.282-45T>C
ENST00000682395.1:n.18T>C
ENST00000682459.1:n.18T>C
ENST00000682467.1:c.334-45T>C	ENSP00000508062.1:n.334-45T>C
ENST00000682795.1:c.334-45T>C	ENSP00000507574.1:n.334-45T>C
ENST00000682895.1:n.5T>C
ENST00000682955.1:n.18T>C
ENST00000683188.1:c.129-45T>C
ENST00000683380.1:n.18T>C
ENST00000683828.1:c.203-45T>C
ENST00000684066.1:n.29-45T>C
ENST00000684102.1:n.80-45T>C
ENST00000684259.1:n.185-45T>C
ENST00000684549.1:n.18T>C
ENST00000684600.1:c.148-45T>C
ENST00000684746.1:n.31-45T>C
ENST00000261534.9:c.334-45T>C MANE Select	ENSP00000261534.4:n.334-45T>C
ENST00000261534.8:c.334-45T>C	ENSP00000261534.4:n.334-45T>C
ENST00000452340.7:n.357-45T>C
ENST00000553863.5:n.18T>C
ENST00000554948.1:c.61-45T>C	ENSP00000452060.1:n.61-45T>C
ENST00000555675.5:n.5T>C
ENST00000555788.5:n.168-45T>C
ENST00000556326.5:c.249-45T>C	ENSP00000450630.1:n.249-45T>C
ENST00000556880.5:n.267-45T>C
ENST00000557525.1:n.424-45T>C
NM_013382.5:c.334-45T>C , LRG_844t1:c.334-45T>C	NP_037514.2:n.334-45T>C
XM_011536675.1:c.334-45T>C	XP_011534977.1:n.334-45T>C
XM_011536676.1:c.1-45T>C	XP_011534978.1:n.1-45T>C
XM_011536677.1:c.334-45T>C	XP_011534979.1:n.334-45T>C
XM_011536678.1:c.334-45T>C	XP_011534980.1:n.334-45T>C
XM_011536680.1:c.334-45T>C	XP_011534982.1:n.334-45T>C
XR_943416.1:n.537-45T>C
XM_011536675.2:c.334-45T>C	XP_011534977.1:n.334-45T>C
XM_011536676.2:c.1-45T>C	XP_011534978.1:n.1-45T>C
XM_011536677.3:c.334-45T>C	XP_011534979.1:n.334-45T>C
XR_001750279.1:n.534-45T>C
XR_001750282.1:n.538-45T>C
XR_943416.3:n.535-45T>C
NM_013382.6:c.334-45T>C	NP_037514.2:n.334-45T>C
NM_013382.7:c.334-45T>C MANE Select	NP_037514.2:n.334-45T>C