Canonical Allele Identifier: CA390517773
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs1333486271

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77286808A>C , CM000676.2:g.77286808A>C GRCh38
NC_000014.8:g.77753151A>C , CM000676.1:g.77753151A>C GRCh37
NC_000014.7:g.76822904A>C NCBI36
NG_008897.1:g.39075T>G , LRG_844:g.39075T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.809T>G ENSP00000451967.2:p.Leu270Trp
ENST00000682247.1:c.1268T>G ENSP00000507213.1:p.Leu423Trp
ENST00000682382.1:c.840T>G
ENST00000682395.1:n.1446T>G
ENST00000682459.1:n.971T>G
ENST00000682467.1:c.1268T>G ENSP00000508062.1:p.Leu423Trp
ENST00000682706.1:n.45T>G
ENST00000682795.1:c.1268T>G ENSP00000507574.1:p.Leu423Trp
ENST00000682895.1:n.984T>G
ENST00000682955.1:n.556T>G
ENST00000683188.1:c.1243T>G
ENST00000683328.1:c.261T>G ENSP00000508096.1:n.261T>G
ENST00000683380.1:n.932T>G
ENST00000683828.1:c.977T>G
ENST00000684259.1:n.1119T>G
ENST00000684444.1:c.15T>G
ENST00000684549.1:n.819T>G
ENST00000261534.9:c.1268T>G MANE Select ENSP00000261534.4:p.Leu423Trp
ENST00000261534.8:c.1268T>G ENSP00000261534.4:p.Leu423Trp
ENST00000452340.7:n.1291T>G
ENST00000553880.5:n.139T>G
ENST00000554767.5:n.2054T>G
ENST00000554884.5:n.260T>G
ENST00000556404.1:n.402T>G
ENST00000556851.1:n.304T>G
ENST00000557675.5:n.358T>G
NM_013382.5:c.1268T>G , LRG_844t1:c.1268T>G NP_037514.2:p.Leu423Trp
XM_011536675.1:c.1268T>G XP_011534977.1:p.Leu423Trp
XM_011536676.1:c.935T>G XP_011534978.1:p.Leu312Trp
XM_011536677.1:c.809T>G XP_011534979.1:p.Leu270Trp
XM_011536678.1:c.1268T>G XP_011534980.1:p.Leu423Trp
XM_011536679.1:c.362T>G XP_011534981.1:p.Leu121Trp
XR_943416.1:n.1471T>G
XM_011536675.2:c.1268T>G XP_011534977.1:p.Leu423Trp
XM_011536676.2:c.935T>G XP_011534978.1:p.Leu312Trp
XM_011536677.3:c.809T>G XP_011534979.1:p.Leu270Trp
XR_001750279.1:n.1468T>G
XR_001750282.1:n.1921T>G
XR_943416.3:n.1469T>G
NM_013382.6:c.1268T>G NP_037514.2:p.Leu423Trp
NM_013382.7:c.1268T>G MANE Select NP_037514.2:p.Leu423Trp