Canonical Allele Identifier: CA223074

Gene: POMT2

Linked Data

• ClinVar Variation Id: 95539
• ClinVar RCV Id: RCV000081570
• dbSNP Id: rs398124263
• ExAC: 14:77744799 C / A
• gnomAD v2: 14-77744799-C-A
• gnomAD v3: 14-77278456-C-A
• gnomAD v4: 14-77278456-C-A
• MyVariant Identifiers: chr14:g.77744799C>A (hg19) ; chr14:g.77278456C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278456C>A , CM000676.2:g.77278456C>A	GRCh38
NC_000014.8:g.77744799C>A , CM000676.1:g.77744799C>A	GRCh37
NC_000014.7:g.76814552C>A	NCBI36
NG_008897.1:g.47427G>T , LRG_844:g.47427G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1010G>T
ENST00000556394.2:c.1626G>T	ENSP00000451967.2:p.Trp542Cys
ENST00000682247.1:c.2074G>T	ENSP00000507213.1:p.Ala692Ser
ENST00000682395.1:n.2549G>T
ENST00000682459.1:n.1788G>T
ENST00000682467.1:c.1944G>T	ENSP00000508062.1:p.Trp648Cys
ENST00000682795.1:c.2232G>T	ENSP00000507574.1:p.Trp744Cys
ENST00000682895.1:n.1801G>T
ENST00000682955.1:n.1659G>T
ENST00000683188.1:c.2346G>T
ENST00000683380.1:n.1749G>T
ENST00000683907.1:c.350G>T	ENSP00000507754.1:n.350G>T
ENST00000684259.1:n.3852G>T
ENST00000684538.1:n.1464G>T
ENST00000684549.1:n.1636G>T
ENST00000261534.9:c.2085G>T MANE Select	ENSP00000261534.4:p.Trp695Cys
ENST00000261534.8:c.2085G>T	ENSP00000261534.4:p.Trp695Cys
ENST00000452340.7:n.3061G>T
ENST00000554767.5:n.2871G>T
ENST00000555710.1:c.446G>T	ENSP00000451730.1:n.446G>T
ENST00000556394.1:c.140G>T
ENST00000556446.1:n.386G>T
ENST00000602717.5:c.300G>T	ENSP00000487704.1:p.Trp100Cys
NM_013382.5:c.2085G>T , LRG_844t1:c.2085G>T	NP_037514.2:p.Trp695Cys
XM_011536675.1:c.2274G>T	XP_011534977.1:p.Trp758Cys
XM_011536676.1:c.1941G>T	XP_011534978.1:p.Trp647Cys
XM_011536677.1:c.1815G>T	XP_011534979.1:p.Trp605Cys
XM_011536679.1:c.1368G>T	XP_011534981.1:p.Trp456Cys
XR_943416.1:n.2338G>T
XM_011536675.2:c.2274G>T	XP_011534977.1:p.Trp758Cys
XM_011536676.2:c.1941G>T	XP_011534978.1:p.Trp647Cys
XM_011536677.3:c.1815G>T	XP_011534979.1:p.Trp605Cys
XR_001750279.1:n.2371G>T
XR_001750282.1:n.3024G>T
XR_943416.3:n.2336G>T
NM_013382.6:c.2085G>T	NP_037514.2:p.Trp695Cys
NM_013382.7:c.2085G>T MANE Select	NP_037514.2:p.Trp695Cys