Canonical Allele Identifier: CA390512543

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77743729C>T (hg19) ; chr14:g.77277386C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77277386C>T , CM000676.2:g.77277386C>T	GRCh38
NC_000014.8:g.77743729C>T , CM000676.1:g.77743729C>T	GRCh37
NC_000014.7:g.76813482C>T	NCBI36
NG_008897.1:g.48497G>A , LRG_844:g.48497G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1168G>A
ENST00000556394.2:c.1784G>A	ENSP00000451967.2:p.Trp595Ter
ENST00000682247.1:c.2232G>A	ENSP00000507213.1:p.Met744Ile
ENST00000682395.1:n.2707G>A
ENST00000682459.1:n.1946G>A
ENST00000682467.1:c.2102G>A	ENSP00000508062.1:p.Trp701Ter
ENST00000682795.1:c.2390G>A	ENSP00000507574.1:p.Trp797Ter
ENST00000682895.1:n.1959G>A
ENST00000682897.1:c.96G>A
ENST00000682955.1:n.1817G>A
ENST00000683188.1:c.2504G>A
ENST00000683380.1:n.1907G>A
ENST00000683784.1:c.96G>A
ENST00000684259.1:n.4010G>A
ENST00000684538.1:n.1622G>A
ENST00000684549.1:n.1794G>A
ENST00000261534.9:c.2243G>A MANE Select	ENSP00000261534.4:p.Trp748Ter
ENST00000261534.8:c.2243G>A	ENSP00000261534.4:p.Trp748Ter
ENST00000452340.7:n.3219G>A
ENST00000554767.5:n.3029G>A
ENST00000556394.1:c.298G>A
ENST00000602717.5:c.363-108G>A	ENSP00000487704.1:n.363-108G>A
NM_013382.5:c.2243G>A , LRG_844t1:c.2243G>A	NP_037514.2:p.Trp748Ter
XM_011536675.1:c.2432G>A	XP_011534977.1:p.Trp811Ter
XM_011536676.1:c.2099G>A	XP_011534978.1:p.Trp700Ter
XM_011536677.1:c.1973G>A	XP_011534979.1:p.Trp658Ter
XM_011536679.1:c.1526G>A	XP_011534981.1:p.Trp509Ter
XR_943416.1:n.2496G>A
XM_011536675.2:c.2432G>A	XP_011534977.1:p.Trp811Ter
XM_011536676.2:c.2099G>A	XP_011534978.1:p.Trp700Ter
XM_011536677.3:c.1973G>A	XP_011534979.1:p.Trp658Ter
XR_001750279.1:n.2529G>A
XR_001750282.1:n.3182G>A
XR_943416.3:n.2494G>A
NM_013382.6:c.2243G>A	NP_037514.2:p.Trp748Ter
NM_013382.7:c.2243G>A MANE Select	NP_037514.2:p.Trp748Ter