Canonical Allele Identifier: CA487324826
Gene: POMT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77765036A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77298693A>T , CM000676.2:g.77298693A>T GRCh38
NC_000014.8:g.77765036A>T , CM000676.1:g.77765036A>T GRCh37
NC_000014.7:g.76834789A>T NCBI36
NG_008897.1:g.27190T>A , LRG_844:g.27190T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000556394.2:c.543T>A ENSP00000451967.2:p.Pro181=
ENST00000557289.2:c.300T>A
ENST00000682247.1:c.1002T>A ENSP00000507213.1:p.Pro334=
ENST00000682382.1:c.574T>A
ENST00000682395.1:n.731T>A
ENST00000682459.1:n.666T>A
ENST00000682467.1:c.1002T>A ENSP00000508062.1:p.Pro334=
ENST00000682795.1:c.1002T>A ENSP00000507574.1:p.Pro334=
ENST00000682895.1:n.718T>A
ENST00000682955.1:n.290T>A
ENST00000683188.1:c.528T>A
ENST00000683300.1:c.110-2420T>A ENSP00000507630.1:n.110-2420T>A
ENST00000683328.1:c.109+5999T>A ENSP00000508096.1:n.109+5999T>A
ENST00000683380.1:n.666T>A
ENST00000683551.1:c.188T>A
ENST00000683828.1:c.711T>A
ENST00000684259.1:n.853T>A
ENST00000684549.1:n.553T>A
ENST00000684554.1:c.239T>A
ENST00000261534.9:c.1002T>A MANE Select ENSP00000261534.4:p.Pro334=
ENST00000261534.8:c.1002T>A ENSP00000261534.4:p.Pro334=
ENST00000452340.7:n.1025T>A
ENST00000554767.5:n.1788T>A
ENST00000557289.1:c.241T>A ENSP00000451115.1:n.241T>A
NM_013382.5:c.1002T>A , LRG_844t1:c.1002T>A NP_037514.2:p.Pro334=
XM_011536675.1:c.1002T>A XP_011534977.1:p.Pro334=
XM_011536676.1:c.669T>A XP_011534978.1:p.Pro223=
XM_011536677.1:c.548-2420T>A XP_011534979.1:n.548-2420T>A
XM_011536678.1:c.1002T>A XP_011534980.1:p.Pro334=
XM_011536679.1:c.96T>A XP_011534981.1:p.Pro32=
XM_011536680.1:c.1002T>A XP_011534982.1:p.Pro334=
XR_943416.1:n.1205T>A
XM_011536675.2:c.1002T>A XP_011534977.1:p.Pro334=
XM_011536676.2:c.669T>A XP_011534978.1:p.Pro223=
XM_011536677.3:c.548-2420T>A XP_011534979.1:n.548-2420T>A
XR_001750279.1:n.1202T>A
XR_001750282.1:n.1206T>A
XR_943416.3:n.1203T>A
NM_013382.6:c.1002T>A NP_037514.2:p.Pro334=
NM_013382.7:c.1002T>A MANE Select NP_037514.2:p.Pro334=