Canonical Allele Identifier: CA390517735
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs767664651

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286793T>A , CM000676.2:g.77286793T>A GRCh38
NC_000014.8:g.77753136T>A , CM000676.1:g.77753136T>A GRCh37
NC_000014.7:g.76822889T>A NCBI36
NG_008897.1:g.39090A>T , LRG_844:g.39090A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.824A>T ENSP00000451967.2:p.His275Leu
ENST00000682247.1:c.1283A>T ENSP00000507213.1:p.His428Leu
ENST00000682382.1:c.855A>T
ENST00000682395.1:n.1461A>T
ENST00000682459.1:n.986A>T
ENST00000682467.1:c.1283A>T ENSP00000508062.1:p.His428Leu
ENST00000682706.1:n.60A>T
ENST00000682795.1:c.1283A>T ENSP00000507574.1:p.His428Leu
ENST00000682895.1:n.999A>T
ENST00000682955.1:n.571A>T
ENST00000683188.1:c.1258A>T
ENST00000683328.1:c.276A>T ENSP00000508096.1:n.276A>T
ENST00000683380.1:n.947A>T
ENST00000683828.1:c.992A>T
ENST00000684259.1:n.1134A>T
ENST00000684444.1:c.30A>T
ENST00000684549.1:n.834A>T
ENST00000261534.9:c.1283A>T MANE Select ENSP00000261534.4:p.His428Leu
ENST00000261534.8:c.1283A>T ENSP00000261534.4:p.His428Leu
ENST00000452340.7:n.1306A>T
ENST00000553880.5:n.154A>T
ENST00000554767.5:n.2069A>T
ENST00000554884.5:n.275A>T
ENST00000556404.1:n.417A>T
ENST00000556851.1:n.319A>T
ENST00000557675.5:n.373A>T
NM_013382.5:c.1283A>T , LRG_844t1:c.1283A>T NP_037514.2:p.His428Leu
XM_011536675.1:c.1283A>T XP_011534977.1:p.His428Leu
XM_011536676.1:c.950A>T XP_011534978.1:p.His317Leu
XM_011536677.1:c.824A>T XP_011534979.1:p.His275Leu
XM_011536678.1:c.1283A>T XP_011534980.1:p.His428Leu
XM_011536679.1:c.377A>T XP_011534981.1:p.His126Leu
XR_943416.1:n.1486A>T
XM_011536675.2:c.1283A>T XP_011534977.1:p.His428Leu
XM_011536676.2:c.950A>T XP_011534978.1:p.His317Leu
XM_011536677.3:c.824A>T XP_011534979.1:p.His275Leu
XR_001750279.1:n.1483A>T
XR_001750282.1:n.1936A>T
XR_943416.3:n.1484A>T
NM_013382.6:c.1283A>T NP_037514.2:p.His428Leu
NM_013382.7:c.1283A>T MANE Select NP_037514.2:p.His428Leu