Canonical Allele Identifier: CA390516515
Community Standard Title: NM_013382.7(POMT2):c.1577T>A (p.Leu526Ter)
Gene: POMT2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77283873A>T , CM000676.2:g.77283873A>T GRCh38
NC_000014.8:g.77750216A>T , CM000676.1:g.77750216A>T GRCh37
NC_000014.7:g.76819969A>T NCBI36
NG_008897.1:g.42010T>A , LRG_844:g.42010T>A

Transcript Alleles

HGVS Amino-acid Change
NM_013382.7:c.1577T>A MANE Select NP_037514.2:p.Leu526Ter
ENST00000261534.9:c.1577T>A MANE Select ENSP00000261534.4:p.Leu526Ter
NM_013382.5:c.1577T>A , LRG_844t1:c.1577T>A NP_037514.2:p.Leu526Ter
NM_013382.6:c.1577T>A NP_037514.2:p.Leu526Ter
ENST00000261534.8:c.1577T>A ENSP00000261534.4:p.Leu526Ter
ENST00000452340.7:n.1600T>A
ENST00000554564.1:n.491T>A
ENST00000554767.5:n.2363T>A
ENST00000555134.1:n.216T>A
ENST00000555134.2:n.216T>A
ENST00000556394.2:c.1118T>A ENSP00000451967.2:p.Leu373Ter
ENST00000682247.1:c.1577T>A ENSP00000507213.1:p.Leu526Ter
ENST00000682382.1:c.2225T>A
ENST00000682395.1:n.1755T>A
ENST00000682459.1:n.1280T>A
ENST00000682467.1:c.1577T>A ENSP00000508062.1:p.Leu526Ter
ENST00000682560.1:c.153T>A ENSP00000507033.1:p.Cys51Ter
ENST00000682729.1:c.161T>A
ENST00000682795.1:c.1577T>A ENSP00000507574.1:p.Leu526Ter
ENST00000682895.1:n.1293T>A
ENST00000682925.1:c.1T>A
ENST00000682955.1:n.865T>A
ENST00000683188.1:c.1552T>A
ENST00000683380.1:n.1241T>A
ENST00000683585.1:n.31T>A
ENST00000683828.1:c.1286T>A
ENST00000684259.1:n.2391T>A
ENST00000684549.1:n.1128T>A
XM_011536675.1:c.1577T>A XP_011534977.1:p.Leu526Ter
XM_011536675.2:c.1577T>A XP_011534977.1:p.Leu526Ter
XM_011536676.1:c.1244T>A XP_011534978.1:p.Leu415Ter
XM_011536676.2:c.1244T>A XP_011534978.1:p.Leu415Ter
XM_011536677.1:c.1118T>A XP_011534979.1:p.Leu373Ter
XM_011536677.3:c.1118T>A XP_011534979.1:p.Leu373Ter
XM_011536678.1:c.1577T>A XP_011534980.1:p.Leu526Ter
XM_011536679.1:c.671T>A XP_011534981.1:p.Leu224Ter
XR_001750279.1:n.1777T>A
XR_001750282.1:n.2230T>A
XR_943416.1:n.1780T>A
XR_943416.3:n.1778T>A