Canonical Allele Identifier: CA390517726

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753132C>G (hg19) ; chr14:g.77286789C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286789C>G , CM000676.2:g.77286789C>G	GRCh38
NC_000014.8:g.77753132C>G , CM000676.1:g.77753132C>G	GRCh37
NC_000014.7:g.76822885C>G	NCBI36
NG_008897.1:g.39094G>C , LRG_844:g.39094G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.828G>C	ENSP00000451967.2:p.Glu276Asp
ENST00000682247.1:c.1287G>C	ENSP00000507213.1:p.Glu429Asp
ENST00000682382.1:c.859G>C
ENST00000682395.1:n.1465G>C
ENST00000682459.1:n.990G>C
ENST00000682467.1:c.1287G>C	ENSP00000508062.1:p.Glu429Asp
ENST00000682706.1:n.64G>C
ENST00000682795.1:c.1287G>C	ENSP00000507574.1:p.Glu429Asp
ENST00000682895.1:n.1003G>C
ENST00000682955.1:n.575G>C
ENST00000683188.1:c.1262G>C
ENST00000683328.1:c.280G>C	ENSP00000508096.1:n.280G>C
ENST00000683380.1:n.951G>C
ENST00000683828.1:c.996G>C
ENST00000684259.1:n.1138G>C
ENST00000684444.1:c.34G>C
ENST00000684549.1:n.838G>C
ENST00000261534.9:c.1287G>C MANE Select	ENSP00000261534.4:p.Glu429Asp
ENST00000261534.8:c.1287G>C	ENSP00000261534.4:p.Glu429Asp
ENST00000452340.7:n.1310G>C
ENST00000553880.5:n.158G>C
ENST00000554767.5:n.2073G>C
ENST00000554884.5:n.279G>C
ENST00000556404.1:n.421G>C
ENST00000556851.1:n.323G>C
ENST00000557675.5:n.377G>C
NM_013382.5:c.1287G>C , LRG_844t1:c.1287G>C	NP_037514.2:p.Glu429Asp
XM_011536675.1:c.1287G>C	XP_011534977.1:p.Glu429Asp
XM_011536676.1:c.954G>C	XP_011534978.1:p.Glu318Asp
XM_011536677.1:c.828G>C	XP_011534979.1:p.Glu276Asp
XM_011536678.1:c.1287G>C	XP_011534980.1:p.Glu429Asp
XM_011536679.1:c.381G>C	XP_011534981.1:p.Glu127Asp
XR_943416.1:n.1490G>C
XM_011536675.2:c.1287G>C	XP_011534977.1:p.Glu429Asp
XM_011536676.2:c.954G>C	XP_011534978.1:p.Glu318Asp
XM_011536677.3:c.828G>C	XP_011534979.1:p.Glu276Asp
XR_001750279.1:n.1487G>C
XR_001750282.1:n.1940G>C
XR_943416.3:n.1488G>C
NM_013382.6:c.1287G>C	NP_037514.2:p.Glu429Asp
NM_013382.7:c.1287G>C MANE Select	NP_037514.2:p.Glu429Asp