Canonical Allele Identifier: CA263824221
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs769494827

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286757G>C , CM000676.2:g.77286757G>C GRCh38
NC_000014.8:g.77753100G>C , CM000676.1:g.77753100G>C GRCh37
NC_000014.7:g.76822853G>C NCBI36
NG_008897.1:g.39126C>G , LRG_844:g.39126C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.860C>G ENSP00000451967.2:p.Thr287Ser
ENST00000682247.1:c.1319C>G ENSP00000507213.1:p.Thr440Ser
ENST00000682382.1:c.891C>G
ENST00000682395.1:n.1497C>G
ENST00000682459.1:n.1022C>G
ENST00000682467.1:c.1319C>G ENSP00000508062.1:p.Thr440Ser
ENST00000682706.1:n.96C>G
ENST00000682795.1:c.1319C>G ENSP00000507574.1:p.Thr440Ser
ENST00000682895.1:n.1035C>G
ENST00000682955.1:n.607C>G
ENST00000683188.1:c.1294C>G
ENST00000683328.1:c.312C>G ENSP00000508096.1:n.312C>G
ENST00000683380.1:n.983C>G
ENST00000683828.1:c.1028C>G
ENST00000684259.1:n.1170C>G
ENST00000684444.1:c.66C>G
ENST00000684549.1:n.870C>G
ENST00000261534.9:c.1319C>G MANE Select ENSP00000261534.4:p.Thr440Ser
ENST00000261534.8:c.1319C>G ENSP00000261534.4:p.Thr440Ser
ENST00000452340.7:n.1342C>G
ENST00000553880.5:n.190C>G
ENST00000554767.5:n.2105C>G
ENST00000554884.5:n.311C>G
ENST00000556404.1:n.453C>G
ENST00000556851.1:n.355C>G
ENST00000557675.5:n.409C>G
NM_013382.5:c.1319C>G , LRG_844t1:c.1319C>G NP_037514.2:p.Thr440Ser
XM_011536675.1:c.1319C>G XP_011534977.1:p.Thr440Ser
XM_011536676.1:c.986C>G XP_011534978.1:p.Thr329Ser
XM_011536677.1:c.860C>G XP_011534979.1:p.Thr287Ser
XM_011536678.1:c.1319C>G XP_011534980.1:p.Thr440Ser
XM_011536679.1:c.413C>G XP_011534981.1:p.Thr138Ser
XR_943416.1:n.1522C>G
XM_011536675.2:c.1319C>G XP_011534977.1:p.Thr440Ser
XM_011536676.2:c.986C>G XP_011534978.1:p.Thr329Ser
XM_011536677.3:c.860C>G XP_011534979.1:p.Thr287Ser
XR_001750279.1:n.1519C>G
XR_001750282.1:n.1972C>G
XR_943416.3:n.1520C>G
NM_013382.6:c.1319C>G NP_037514.2:p.Thr440Ser
NM_013382.7:c.1319C>G MANE Select NP_037514.2:p.Thr440Ser