Canonical Allele Identifier: CA295434

Gene: POMT2

Linked Data

• ClinVar Variation Id: 162597
• ClinVar RCV Id: RCV000231660 ; RCV000594145 ; RCV000699248 ; RCV001004950 ; RCV001731484 ; RCV002498687 ; RCV003474801
• dbSNP Id: rs727502855
• ExAC: 14:77753158 G / A
• gnomAD v2: 14-77753158-G-A
• gnomAD v3: 14-77286815-G-A
• gnomAD v4: 14-77286815-G-A
• MyVariant Identifiers: chr14:g.77753158G>A (hg19) ; chr14:g.77286815G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286815G>A , CM000676.2:g.77286815G>A	GRCh38
NC_000014.8:g.77753158G>A , CM000676.1:g.77753158G>A	GRCh37
NC_000014.7:g.76822911G>A	NCBI36
NG_008897.1:g.39068C>T , LRG_844:g.39068C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000556394.2:c.802C>T	ENSP00000451967.2:p.Arg268Trp
ENST00000682247.1:c.1261C>T	ENSP00000507213.1:p.Arg421Trp
ENST00000682382.1:c.833C>T
ENST00000682395.1:n.1439C>T
ENST00000682459.1:n.964C>T
ENST00000682467.1:c.1261C>T	ENSP00000508062.1:p.Arg421Trp
ENST00000682706.1:n.38C>T
ENST00000682795.1:c.1261C>T	ENSP00000507574.1:p.Arg421Trp
ENST00000682895.1:n.977C>T
ENST00000682955.1:n.549C>T
ENST00000683188.1:c.1236C>T
ENST00000683328.1:c.254C>T	ENSP00000508096.1:n.254C>T
ENST00000683380.1:n.925C>T
ENST00000683828.1:c.970C>T
ENST00000684259.1:n.1112C>T
ENST00000684444.1:c.8C>T
ENST00000684549.1:n.812C>T
ENST00000261534.9:c.1261C>T MANE Select	ENSP00000261534.4:p.Arg421Trp
ENST00000261534.8:c.1261C>T	ENSP00000261534.4:p.Arg421Trp
ENST00000452340.7:n.1284C>T
ENST00000553880.5:n.132C>T
ENST00000554767.5:n.2047C>T
ENST00000554884.5:n.253C>T
ENST00000556404.1:n.395C>T
ENST00000556851.1:n.297C>T
ENST00000557675.5:n.351C>T
NM_013382.5:c.1261C>T , LRG_844t1:c.1261C>T	NP_037514.2:p.Arg421Trp
XM_011536675.1:c.1261C>T	XP_011534977.1:p.Arg421Trp
XM_011536676.1:c.928C>T	XP_011534978.1:p.Arg310Trp
XM_011536677.1:c.802C>T	XP_011534979.1:p.Arg268Trp
XM_011536678.1:c.1261C>T	XP_011534980.1:p.Arg421Trp
XM_011536679.1:c.355C>T	XP_011534981.1:p.Arg119Trp
XR_943416.1:n.1464C>T
XM_011536675.2:c.1261C>T	XP_011534977.1:p.Arg421Trp
XM_011536676.2:c.928C>T	XP_011534978.1:p.Arg310Trp
XM_011536677.3:c.802C>T	XP_011534979.1:p.Arg268Trp
XR_001750279.1:n.1461C>T
XR_001750282.1:n.1914C>T
XR_943416.3:n.1462C>T
NM_013382.6:c.1261C>T	NP_037514.2:p.Arg421Trp
NM_013382.7:c.1261C>T MANE Select	NP_037514.2:p.Arg421Trp