Canonical Allele Identifier: CA487509349

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2931461
• ClinVar RCV Id: RCV003785163
• dbSNP Id: rs1293109605
• gnomAD v2: 14-77744802-T-C
• gnomAD v4: 14-77278459-T-C
• MyVariant Identifiers: chr14:g.77744802T>C (hg19) ; chr14:g.77278459T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278459T>C , CM000676.2:g.77278459T>C	GRCh38
NC_000014.8:g.77744802T>C , CM000676.1:g.77744802T>C	GRCh37
NC_000014.7:g.76814555T>C	NCBI36
NG_008897.1:g.47424A>G , LRG_844:g.47424A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1007A>G
ENST00000556394.2:c.1623A>G	ENSP00000451967.2:p.Ser541=
ENST00000682247.1:c.2071A>G	ENSP00000507213.1:p.Met691Val
ENST00000682395.1:n.2546A>G
ENST00000682459.1:n.1785A>G
ENST00000682467.1:c.1941A>G	ENSP00000508062.1:p.Ser647=
ENST00000682795.1:c.2229A>G	ENSP00000507574.1:p.Ser743=
ENST00000682895.1:n.1798A>G
ENST00000682955.1:n.1656A>G
ENST00000683188.1:c.2343A>G
ENST00000683380.1:n.1746A>G
ENST00000683907.1:c.347A>G	ENSP00000507754.1:n.347A>G
ENST00000684259.1:n.3849A>G
ENST00000684538.1:n.1461A>G
ENST00000684549.1:n.1633A>G
ENST00000261534.9:c.2082A>G MANE Select	ENSP00000261534.4:p.Ser694=
ENST00000261534.8:c.2082A>G	ENSP00000261534.4:p.Ser694=
ENST00000452340.7:n.3058A>G
ENST00000554767.5:n.2868A>G
ENST00000555710.1:c.443A>G	ENSP00000451730.1:n.443A>G
ENST00000556394.1:c.137A>G
ENST00000556446.1:n.383A>G
ENST00000602717.5:c.297A>G	ENSP00000487704.1:p.Ser99=
NM_013382.5:c.2082A>G , LRG_844t1:c.2082A>G	NP_037514.2:p.Ser694=
XM_011536675.1:c.2271A>G	XP_011534977.1:p.Ser757=
XM_011536676.1:c.1938A>G	XP_011534978.1:p.Ser646=
XM_011536677.1:c.1812A>G	XP_011534979.1:p.Ser604=
XM_011536679.1:c.1365A>G	XP_011534981.1:p.Ser455=
XR_943416.1:n.2335A>G
XM_011536675.2:c.2271A>G	XP_011534977.1:p.Ser757=
XM_011536676.2:c.1938A>G	XP_011534978.1:p.Ser646=
XM_011536677.3:c.1812A>G	XP_011534979.1:p.Ser604=
XR_001750279.1:n.2368A>G
XR_001750282.1:n.3021A>G
XR_943416.3:n.2333A>G
NM_013382.6:c.2082A>G	NP_037514.2:p.Ser694=
NM_013382.7:c.2082A>G MANE Select	NP_037514.2:p.Ser694=