Canonical Allele Identifier: CA10605386

Gene: POMT2

Linked Data

• ClinVar Variation Id: 286175
• ClinVar RCV Id: RCV000368923 ; RCV002059195
• dbSNP Id: rs756802962
• gnomAD v2: 14-77778304-C-T
• gnomAD v4: 14-77311961-C-T
• MyVariant Identifiers: chr14:g.77778304C>T (hg19) ; chr14:g.77311961C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77311961C>T , CM000676.2:g.77311961C>T	GRCh38
NC_000014.8:g.77778304C>T , CM000676.1:g.77778304C>T	GRCh37
NC_000014.7:g.76848057C>T	NCBI36
NG_008897.1:g.13922G>A , LRG_844:g.13922G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-7161G>A	ENSP00000451967.2:n.249-7161G>A
ENST00000682247.1:c.321G>A	ENSP00000507213.1:p.Pro107=
ENST00000682382.1:c.269G>A
ENST00000682467.1:c.321G>A	ENSP00000508062.1:p.Pro107=
ENST00000682795.1:c.321G>A	ENSP00000507574.1:p.Pro107=
ENST00000683188.1:c.116G>A
ENST00000683828.1:c.190G>A
ENST00000684102.1:n.67G>A
ENST00000684259.1:n.172G>A
ENST00000684344.1:c.*141G>A	ENSP00000507432.1:n.*141G>A
ENST00000684600.1:c.73G>A
ENST00000261534.9:c.321G>A MANE Select	ENSP00000261534.4:p.Pro107=
ENST00000261534.8:c.321G>A	ENSP00000261534.4:p.Pro107=
ENST00000452340.7:n.344G>A
ENST00000554948.1:c.48G>A	ENSP00000452060.1:p.Pro16=
ENST00000555788.5:n.155G>A
ENST00000556326.5:c.249-5520G>A	ENSP00000450630.1:n.249-5520G>A
ENST00000557525.1:n.411G>A
NM_013382.5:c.321G>A , LRG_844t1:c.321G>A	NP_037514.2:p.Pro107=
XM_011536675.1:c.321G>A	XP_011534977.1:p.Pro107=
XM_011536676.1:c.1-5520G>A	XP_011534978.1:n.1-5520G>A
XM_011536677.1:c.321G>A	XP_011534979.1:p.Pro107=
XM_011536678.1:c.321G>A	XP_011534980.1:p.Pro107=
XM_011536680.1:c.321G>A	XP_011534982.1:p.Pro107=
XR_943416.1:n.524G>A
XM_011536675.2:c.321G>A	XP_011534977.1:p.Pro107=
XM_011536676.2:c.1-5520G>A	XP_011534978.1:n.1-5520G>A
XM_011536677.3:c.321G>A	XP_011534979.1:p.Pro107=
XR_001750279.1:n.521G>A
XR_001750282.1:n.525G>A
XR_943416.3:n.522G>A
NM_013382.6:c.321G>A	NP_037514.2:p.Pro107=
NM_013382.7:c.321G>A MANE Select	NP_037514.2:p.Pro107=