Canonical Allele Identifier: CA7285856
Community Standard Title: NM_013382.7(POMT2):c.1433A>G (p.His478Arg)
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77285532T>C , CM000676.2:g.77285532T>C GRCh38
NC_000014.8:g.77751875T>C , CM000676.1:g.77751875T>C GRCh37
NC_000014.7:g.76821628T>C NCBI36
NG_008897.1:g.40351A>G , LRG_844:g.40351A>G

Transcript Alleles

HGVS Amino-acid Change
NM_013382.7:c.1433A>G MANE Select NP_037514.2:p.His478Arg
ENST00000261534.9:c.1433A>G MANE Select ENSP00000261534.4:p.His478Arg
NM_013382.5:c.1433A>G , LRG_844t1:c.1433A>G NP_037514.2:p.His478Arg
NM_013382.6:c.1433A>G NP_037514.2:p.His478Arg
ENST00000261534.8:c.1433A>G ENSP00000261534.4:p.His478Arg
ENST00000452340.7:n.1456A>G
ENST00000553880.5:n.304A>G
ENST00000554767.5:n.2219A>G
ENST00000554884.5:n.425A>G
ENST00000555134.1:n.72A>G
ENST00000555134.2:n.72A>G
ENST00000556394.2:c.974A>G ENSP00000451967.2:p.His325Arg
ENST00000557675.5:n.523A>G
ENST00000682247.1:c.1433A>G ENSP00000507213.1:p.His478Arg
ENST00000682382.1:c.1005A>G
ENST00000682395.1:n.1611A>G
ENST00000682459.1:n.1136A>G
ENST00000682467.1:c.1433A>G ENSP00000508062.1:p.His478Arg
ENST00000682560.1:c.101A>G ENSP00000507033.1:p.His34Arg
ENST00000682795.1:c.1433A>G ENSP00000507574.1:p.His478Arg
ENST00000682895.1:n.1149A>G
ENST00000682955.1:n.721A>G
ENST00000683188.1:c.1408A>G
ENST00000683380.1:n.1097A>G
ENST00000683828.1:c.1142A>G
ENST00000684259.1:n.1284A>G
ENST00000684444.1:c.184A>G
ENST00000684549.1:n.984A>G
XM_011536675.1:c.1433A>G XP_011534977.1:p.His478Arg
XM_011536675.2:c.1433A>G XP_011534977.1:p.His478Arg
XM_011536676.1:c.1100A>G XP_011534978.1:p.His367Arg
XM_011536676.2:c.1100A>G XP_011534978.1:p.His367Arg
XM_011536677.1:c.974A>G XP_011534979.1:p.His325Arg
XM_011536677.3:c.974A>G XP_011534979.1:p.His325Arg
XM_011536678.1:c.1433A>G XP_011534980.1:p.His478Arg
XM_011536679.1:c.527A>G XP_011534981.1:p.His176Arg
XR_001750279.1:n.1633A>G
XR_001750282.1:n.2086A>G
XR_943416.1:n.1636A>G
XR_943416.3:n.1634A>G