Canonical Allele Identifier: CA263823667
Community Standard Title: NM_013382.7(POMT2):c.1333-14G>A
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77285646C>T , CM000676.2:g.77285646C>T GRCh38
NC_000014.8:g.77751989C>T , CM000676.1:g.77751989C>T GRCh37
NC_000014.7:g.76821742C>T NCBI36
NG_008897.1:g.40237G>A , LRG_844:g.40237G>A

Transcript Alleles

HGVS Amino-acid Change
NM_013382.7:c.1333-14G>A MANE Select NP_037514.2:n.1333-14G>A
ENST00000261534.9:c.1333-14G>A MANE Select ENSP00000261534.4:n.1333-14G>A
NM_013382.5:c.1333-14G>A , LRG_844t1:c.1333-14G>A NP_037514.2:n.1333-14G>A
NM_013382.6:c.1333-14G>A NP_037514.2:n.1333-14G>A
ENST00000261534.8:c.1333-14G>A ENSP00000261534.4:n.1333-14G>A
ENST00000452340.7:n.1356-14G>A
ENST00000553880.5:n.204-14G>A
ENST00000554767.5:n.2119-14G>A
ENST00000554884.5:n.325-14G>A
ENST00000556394.2:c.874-14G>A ENSP00000451967.2:n.874-14G>A
ENST00000556404.1:n.467-14G>A
ENST00000557675.5:n.423-14G>A
ENST00000682247.1:c.1333-14G>A ENSP00000507213.1:n.1333-14G>A
ENST00000682382.1:c.905-14G>A
ENST00000682395.1:n.1511-14G>A
ENST00000682459.1:n.1036-14G>A
ENST00000682467.1:c.1333-14G>A ENSP00000508062.1:n.1333-14G>A
ENST00000682795.1:c.1333-14G>A ENSP00000507574.1:n.1333-14G>A
ENST00000682895.1:n.1049-14G>A
ENST00000682955.1:n.621-14G>A
ENST00000683188.1:c.1308-14G>A
ENST00000683380.1:n.997-14G>A
ENST00000683828.1:c.1042-14G>A
ENST00000684259.1:n.1184-14G>A
ENST00000684444.1:c.84-14G>A
ENST00000684549.1:n.884-14G>A
XM_011536675.1:c.1333-14G>A XP_011534977.1:n.1333-14G>A
XM_011536675.2:c.1333-14G>A XP_011534977.1:n.1333-14G>A
XM_011536676.1:c.1000-14G>A XP_011534978.1:n.1000-14G>A
XM_011536676.2:c.1000-14G>A XP_011534978.1:n.1000-14G>A
XM_011536677.1:c.874-14G>A XP_011534979.1:n.874-14G>A
XM_011536677.3:c.874-14G>A XP_011534979.1:n.874-14G>A
XM_011536678.1:c.1333-14G>A XP_011534980.1:n.1333-14G>A
XM_011536679.1:c.427-14G>A XP_011534981.1:n.427-14G>A
XR_001750279.1:n.1533-14G>A
XR_001750282.1:n.1986-14G>A
XR_943416.1:n.1536-14G>A
XR_943416.3:n.1534-14G>A