Canonical Allele Identifier: CA7285558

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2054343
• ClinVar RCV Id: RCV002927922
• dbSNP Id: rs756482311
• ExAC: 14:77744849 T / C
• gnomAD v2: 14-77744849-T-C
• gnomAD v4: 14-77278506-T-C
• MyVariant Identifiers: chr14:g.77744849T>C (hg19) ; chr14:g.77278506T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278506T>C , CM000676.2:g.77278506T>C	GRCh38
NC_000014.8:g.77744849T>C , CM000676.1:g.77744849T>C	GRCh37
NC_000014.7:g.76814602T>C	NCBI36
NG_008897.1:g.47377A>G , LRG_844:g.47377A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.960A>G
ENST00000556394.2:c.1576A>G	ENSP00000451967.2:p.Ile526Val
ENST00000682247.1:c.2024A>G	ENSP00000507213.1:p.His675Arg
ENST00000682395.1:n.2499A>G
ENST00000682459.1:n.1738A>G
ENST00000682467.1:c.1894A>G	ENSP00000508062.1:p.Ile632Val
ENST00000682795.1:c.2182A>G	ENSP00000507574.1:p.Ile728Val
ENST00000682895.1:n.1751A>G
ENST00000682955.1:n.1609A>G
ENST00000683188.1:c.2296A>G
ENST00000683380.1:n.1699A>G
ENST00000683907.1:c.300A>G	ENSP00000507754.1:n.300A>G
ENST00000684259.1:n.3802A>G
ENST00000684538.1:n.1414A>G
ENST00000684549.1:n.1586A>G
ENST00000261534.9:c.2035A>G MANE Select	ENSP00000261534.4:p.Ile679Val
ENST00000261534.8:c.2035A>G	ENSP00000261534.4:p.Ile679Val
ENST00000452340.7:n.3011A>G
ENST00000554767.5:n.2821A>G
ENST00000555710.1:c.396A>G	ENSP00000451730.1:n.396A>G
ENST00000556394.1:c.90A>G
ENST00000556446.1:n.336A>G
ENST00000602717.5:c.250A>G	ENSP00000487704.1:p.Ile84Val
NM_013382.5:c.2035A>G , LRG_844t1:c.2035A>G	NP_037514.2:p.Ile679Val
XM_011536675.1:c.2224A>G	XP_011534977.1:p.Ile742Val
XM_011536676.1:c.1891A>G	XP_011534978.1:p.Ile631Val
XM_011536677.1:c.1765A>G	XP_011534979.1:p.Ile589Val
XM_011536679.1:c.1318A>G	XP_011534981.1:p.Ile440Val
XR_943416.1:n.2288A>G
XM_011536675.2:c.2224A>G	XP_011534977.1:p.Ile742Val
XM_011536676.2:c.1891A>G	XP_011534978.1:p.Ile631Val
XM_011536677.3:c.1765A>G	XP_011534979.1:p.Ile589Val
XR_001750279.1:n.2321A>G
XR_001750282.1:n.2974A>G
XR_943416.3:n.2286A>G
NM_013382.6:c.2035A>G	NP_037514.2:p.Ile679Val
NM_013382.7:c.2035A>G MANE Select	NP_037514.2:p.Ile679Val