Canonical Allele Identifier: CA390512544
Gene: POMT2 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.77743730A>T (hg19) chr14:g.77277387A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77277387A>T , CM000676.2:g.77277387A>T GRCh38
NC_000014.8:g.77743730A>T , CM000676.1:g.77743730A>T GRCh37
NC_000014.7:g.76813483A>T NCBI36
NG_008897.1:g.48496T>A , LRG_844:g.48496T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000555134.2:n.1167T>A
ENST00000556394.2:c.1783T>A ENSP00000451967.2:p.Trp595Arg
ENST00000682247.1:c.2231T>A ENSP00000507213.1:p.Met744Lys
ENST00000682395.1:n.2706T>A
ENST00000682459.1:n.1945T>A
ENST00000682467.1:c.2101T>A ENSP00000508062.1:p.Trp701Arg
ENST00000682795.1:c.2389T>A ENSP00000507574.1:p.Trp797Arg
ENST00000682895.1:n.1958T>A
ENST00000682897.1:c.95T>A
ENST00000682955.1:n.1816T>A
ENST00000683188.1:c.2503T>A
ENST00000683380.1:n.1906T>A
ENST00000683784.1:c.95T>A
ENST00000684259.1:n.4009T>A
ENST00000684538.1:n.1621T>A
ENST00000684549.1:n.1793T>A
ENST00000261534.9:c.2242T>A MANE Select ENSP00000261534.4:p.Trp748Arg
ENST00000261534.8:c.2242T>A ENSP00000261534.4:p.Trp748Arg
ENST00000452340.7:n.3218T>A
ENST00000554767.5:n.3028T>A
ENST00000556394.1:c.297T>A
ENST00000602717.5:c.363-109T>A ENSP00000487704.1:n.363-109T>A
NM_013382.5:c.2242T>A , LRG_844t1:c.2242T>A NP_037514.2:p.Trp748Arg
XM_011536675.1:c.2431T>A XP_011534977.1:p.Trp811Arg
XM_011536676.1:c.2098T>A XP_011534978.1:p.Trp700Arg
XM_011536677.1:c.1972T>A XP_011534979.1:p.Trp658Arg
XM_011536679.1:c.1525T>A XP_011534981.1:p.Trp509Arg
XR_943416.1:n.2495T>A
XM_011536675.2:c.2431T>A XP_011534977.1:p.Trp811Arg
XM_011536676.2:c.2098T>A XP_011534978.1:p.Trp700Arg
XM_011536677.3:c.1972T>A XP_011534979.1:p.Trp658Arg
XR_001750279.1:n.2528T>A
XR_001750282.1:n.3181T>A
XR_943416.3:n.2493T>A
NM_013382.6:c.2242T>A NP_037514.2:p.Trp748Arg
NM_013382.7:c.2242T>A MANE Select NP_037514.2:p.Trp748Arg
Search 100 bp 5'
Search 100 bp 3'