Canonical Allele Identifier: CA263818680
Community Standard Title: NM_013382.7(POMT2):c.1786-8C>T
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77279936G>A , CM000676.2:g.77279936G>A GRCh38
NC_000014.8:g.77746279G>A , CM000676.1:g.77746279G>A GRCh37
NC_000014.7:g.76816032G>A NCBI36
NG_008897.1:g.45947C>T , LRG_844:g.45947C>T

Transcript Alleles

HGVS Amino-acid Change
NM_013382.7:c.1786-8C>T MANE Select NP_037514.2:n.1786-8C>T
ENST00000261534.9:c.1786-8C>T MANE Select ENSP00000261534.4:n.1786-8C>T
NM_013382.5:c.1786-8C>T , LRG_844t1:c.1786-8C>T NP_037514.2:n.1786-8C>T
NM_013382.6:c.1786-8C>T NP_037514.2:n.1786-8C>T
ENST00000261534.8:c.1786-8C>T ENSP00000261534.4:n.1786-8C>T
ENST00000452340.7:n.1809-8C>T
ENST00000554767.5:n.2572-8C>T
ENST00000555134.1:n.425-8C>T
ENST00000555134.2:n.425-8C>T
ENST00000555710.1:c.55-8C>T ENSP00000451730.1:n.55-8C>T
ENST00000556171.1:c.189-8C>T
ENST00000556394.2:c.1327-8C>T ENSP00000451967.2:n.1327-8C>T
ENST00000682247.1:c.1786-8C>T ENSP00000507213.1:n.1786-8C>T
ENST00000682382.1:c.2434-8C>T
ENST00000682395.1:n.1964-8C>T
ENST00000682459.1:n.1489-8C>T
ENST00000682467.1:c.1786-8C>T ENSP00000508062.1:n.1786-8C>T
ENST00000682795.1:c.1786-8C>T ENSP00000507574.1:n.1786-8C>T
ENST00000682895.1:n.1502-8C>T
ENST00000682955.1:n.1074-8C>T
ENST00000682973.1:c.73-8C>T ENSP00000508268.1:n.73-8C>T
ENST00000683095.1:c.192-8C>T ENSP00000508040.1:n.192-8C>T
ENST00000683188.1:c.1761-8C>T
ENST00000683380.1:n.1450-8C>T
ENST00000683828.1:c.1495-8C>T
ENST00000684172.1:c.162-8C>T ENSP00000508391.1:n.162-8C>T
ENST00000684259.1:n.2600-8C>T
ENST00000684538.1:n.212-8C>T
ENST00000684549.1:n.1337-8C>T
XM_011536675.1:c.1786-8C>T XP_011534977.1:n.1786-8C>T
XM_011536675.2:c.1786-8C>T XP_011534977.1:n.1786-8C>T
XM_011536676.1:c.1453-8C>T XP_011534978.1:n.1453-8C>T
XM_011536676.2:c.1453-8C>T XP_011534978.1:n.1453-8C>T
XM_011536677.1:c.1327-8C>T XP_011534979.1:n.1327-8C>T
XM_011536677.3:c.1327-8C>T XP_011534979.1:n.1327-8C>T
XM_011536678.1:c.1786-8C>T XP_011534980.1:n.1786-8C>T
XM_011536679.1:c.880-8C>T XP_011534981.1:n.880-8C>T
XR_001750279.1:n.1986-8C>T
XR_001750282.1:n.2439-8C>T
XR_943416.1:n.1989-8C>T
XR_943416.3:n.1987-8C>T