Canonical Allele Identifier: CA390517679
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1377692174

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286767A>G , CM000676.2:g.77286767A>G GRCh38
NC_000014.8:g.77753110A>G , CM000676.1:g.77753110A>G GRCh37
NC_000014.7:g.76822863A>G NCBI36
NG_008897.1:g.39116T>C , LRG_844:g.39116T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.850T>C ENSP00000451967.2:p.Tyr284His
ENST00000682247.1:c.1309T>C ENSP00000507213.1:p.Tyr437His
ENST00000682382.1:c.881T>C
ENST00000682395.1:n.1487T>C
ENST00000682459.1:n.1012T>C
ENST00000682467.1:c.1309T>C ENSP00000508062.1:p.Tyr437His
ENST00000682706.1:n.86T>C
ENST00000682795.1:c.1309T>C ENSP00000507574.1:p.Tyr437His
ENST00000682895.1:n.1025T>C
ENST00000682955.1:n.597T>C
ENST00000683188.1:c.1284T>C
ENST00000683328.1:c.302T>C ENSP00000508096.1:n.302T>C
ENST00000683380.1:n.973T>C
ENST00000683828.1:c.1018T>C
ENST00000684259.1:n.1160T>C
ENST00000684444.1:c.56T>C
ENST00000684549.1:n.860T>C
ENST00000261534.9:c.1309T>C MANE Select ENSP00000261534.4:p.Tyr437His
ENST00000261534.8:c.1309T>C ENSP00000261534.4:p.Tyr437His
ENST00000452340.7:n.1332T>C
ENST00000553880.5:n.180T>C
ENST00000554767.5:n.2095T>C
ENST00000554884.5:n.301T>C
ENST00000556404.1:n.443T>C
ENST00000556851.1:n.345T>C
ENST00000557675.5:n.399T>C
NM_013382.5:c.1309T>C , LRG_844t1:c.1309T>C NP_037514.2:p.Tyr437His
XM_011536675.1:c.1309T>C XP_011534977.1:p.Tyr437His
XM_011536676.1:c.976T>C XP_011534978.1:p.Tyr326His
XM_011536677.1:c.850T>C XP_011534979.1:p.Tyr284His
XM_011536678.1:c.1309T>C XP_011534980.1:p.Tyr437His
XM_011536679.1:c.403T>C XP_011534981.1:p.Tyr135His
XR_943416.1:n.1512T>C
XM_011536675.2:c.1309T>C XP_011534977.1:p.Tyr437His
XM_011536676.2:c.976T>C XP_011534978.1:p.Tyr326His
XM_011536677.3:c.850T>C XP_011534979.1:p.Tyr284His
XR_001750279.1:n.1509T>C
XR_001750282.1:n.1962T>C
XR_943416.3:n.1510T>C
NM_013382.6:c.1309T>C NP_037514.2:p.Tyr437His
NM_013382.7:c.1309T>C MANE Select NP_037514.2:p.Tyr437His