Canonical Allele Identifier: CA390517684

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753112T>C (hg19) ; chr14:g.77286769T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286769T>C , CM000676.2:g.77286769T>C	GRCh38
NC_000014.8:g.77753112T>C , CM000676.1:g.77753112T>C	GRCh37
NC_000014.7:g.76822865T>C	NCBI36
NG_008897.1:g.39114A>G , LRG_844:g.39114A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.848A>G	ENSP00000451967.2:p.His283Arg
ENST00000682247.1:c.1307A>G	ENSP00000507213.1:p.His436Arg
ENST00000682382.1:c.879A>G
ENST00000682395.1:n.1485A>G
ENST00000682459.1:n.1010A>G
ENST00000682467.1:c.1307A>G	ENSP00000508062.1:p.His436Arg
ENST00000682706.1:n.84A>G
ENST00000682795.1:c.1307A>G	ENSP00000507574.1:p.His436Arg
ENST00000682895.1:n.1023A>G
ENST00000682955.1:n.595A>G
ENST00000683188.1:c.1282A>G
ENST00000683328.1:c.300A>G	ENSP00000508096.1:n.300A>G
ENST00000683380.1:n.971A>G
ENST00000683828.1:c.1016A>G
ENST00000684259.1:n.1158A>G
ENST00000684444.1:c.54A>G
ENST00000684549.1:n.858A>G
ENST00000261534.9:c.1307A>G MANE Select	ENSP00000261534.4:p.His436Arg
ENST00000261534.8:c.1307A>G	ENSP00000261534.4:p.His436Arg
ENST00000452340.7:n.1330A>G
ENST00000553880.5:n.178A>G
ENST00000554767.5:n.2093A>G
ENST00000554884.5:n.299A>G
ENST00000556404.1:n.441A>G
ENST00000556851.1:n.343A>G
ENST00000557675.5:n.397A>G
NM_013382.5:c.1307A>G , LRG_844t1:c.1307A>G	NP_037514.2:p.His436Arg
XM_011536675.1:c.1307A>G	XP_011534977.1:p.His436Arg
XM_011536676.1:c.974A>G	XP_011534978.1:p.His325Arg
XM_011536677.1:c.848A>G	XP_011534979.1:p.His283Arg
XM_011536678.1:c.1307A>G	XP_011534980.1:p.His436Arg
XM_011536679.1:c.401A>G	XP_011534981.1:p.His134Arg
XR_943416.1:n.1510A>G
XM_011536675.2:c.1307A>G	XP_011534977.1:p.His436Arg
XM_011536676.2:c.974A>G	XP_011534978.1:p.His325Arg
XM_011536677.3:c.848A>G	XP_011534979.1:p.His283Arg
XR_001750279.1:n.1507A>G
XR_001750282.1:n.1960A>G
XR_943416.3:n.1508A>G
NM_013382.6:c.1307A>G	NP_037514.2:p.His436Arg
NM_013382.7:c.1307A>G MANE Select	NP_037514.2:p.His436Arg