Canonical Allele Identifier: CA390513589

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2935877
• ClinVar RCV Id: RCV003793971
• gnomAD v4: 14-77278477-A-T
• MyVariant Identifiers: chr14:g.77744820A>T (hg19) ; chr14:g.77278477A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278477A>T , CM000676.2:g.77278477A>T	GRCh38
NC_000014.8:g.77744820A>T , CM000676.1:g.77744820A>T	GRCh37
NC_000014.7:g.76814573A>T	NCBI36
NG_008897.1:g.47406T>A , LRG_844:g.47406T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.989T>A
ENST00000556394.2:c.1605T>A	ENSP00000451967.2:p.Cys535Ter
ENST00000682247.1:c.2053T>A	ENSP00000507213.1:p.Cys685Ser
ENST00000682395.1:n.2528T>A
ENST00000682459.1:n.1767T>A
ENST00000682467.1:c.1923T>A	ENSP00000508062.1:p.Cys641Ter
ENST00000682795.1:c.2211T>A	ENSP00000507574.1:p.Cys737Ter
ENST00000682895.1:n.1780T>A
ENST00000682955.1:n.1638T>A
ENST00000683188.1:c.2325T>A
ENST00000683380.1:n.1728T>A
ENST00000683907.1:c.329T>A	ENSP00000507754.1:n.329T>A
ENST00000684259.1:n.3831T>A
ENST00000684538.1:n.1443T>A
ENST00000684549.1:n.1615T>A
ENST00000261534.9:c.2064T>A MANE Select	ENSP00000261534.4:p.Cys688Ter
ENST00000261534.8:c.2064T>A	ENSP00000261534.4:p.Cys688Ter
ENST00000452340.7:n.3040T>A
ENST00000554767.5:n.2850T>A
ENST00000555710.1:c.425T>A	ENSP00000451730.1:n.425T>A
ENST00000556394.1:c.119T>A
ENST00000556446.1:n.365T>A
ENST00000602717.5:c.279T>A	ENSP00000487704.1:p.Cys93Ter
NM_013382.5:c.2064T>A , LRG_844t1:c.2064T>A	NP_037514.2:p.Cys688Ter
XM_011536675.1:c.2253T>A	XP_011534977.1:p.Cys751Ter
XM_011536676.1:c.1920T>A	XP_011534978.1:p.Cys640Ter
XM_011536677.1:c.1794T>A	XP_011534979.1:p.Cys598Ter
XM_011536679.1:c.1347T>A	XP_011534981.1:p.Cys449Ter
XR_943416.1:n.2317T>A
XM_011536675.2:c.2253T>A	XP_011534977.1:p.Cys751Ter
XM_011536676.2:c.1920T>A	XP_011534978.1:p.Cys640Ter
XM_011536677.3:c.1794T>A	XP_011534979.1:p.Cys598Ter
XR_001750279.1:n.2350T>A
XR_001750282.1:n.3003T>A
XR_943416.3:n.2315T>A
NM_013382.6:c.2064T>A	NP_037514.2:p.Cys688Ter
NM_013382.7:c.2064T>A MANE Select	NP_037514.2:p.Cys688Ter