Canonical Allele Identifier: CA390517634

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753088A>G (hg19) ; chr14:g.77286745A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286745A>G , CM000676.2:g.77286745A>G	GRCh38
NC_000014.8:g.77753088A>G , CM000676.1:g.77753088A>G	GRCh37
NC_000014.7:g.76822841A>G	NCBI36
NG_008897.1:g.39138T>C , LRG_844:g.39138T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.872T>C	ENSP00000451967.2:p.Ile291Thr
ENST00000682247.1:c.1331T>C	ENSP00000507213.1:p.Ile444Thr
ENST00000682382.1:c.903T>C
ENST00000682395.1:n.1509T>C
ENST00000682459.1:n.1034T>C
ENST00000682467.1:c.1331T>C	ENSP00000508062.1:p.Ile444Thr
ENST00000682706.1:n.108T>C
ENST00000682795.1:c.1331T>C	ENSP00000507574.1:p.Ile444Thr
ENST00000682895.1:n.1047T>C
ENST00000682955.1:n.619T>C
ENST00000683188.1:c.1306T>C
ENST00000683328.1:c.324T>C	ENSP00000508096.1:n.324T>C
ENST00000683380.1:n.995T>C
ENST00000683828.1:c.1040T>C
ENST00000684259.1:n.1182T>C
ENST00000684444.1:c.78T>C
ENST00000684549.1:n.882T>C
ENST00000261534.9:c.1331T>C MANE Select	ENSP00000261534.4:p.Ile444Thr
ENST00000261534.8:c.1331T>C	ENSP00000261534.4:p.Ile444Thr
ENST00000452340.7:n.1354T>C
ENST00000553880.5:n.202T>C
ENST00000554767.5:n.2117T>C
ENST00000554884.5:n.323T>C
ENST00000556404.1:n.465T>C
ENST00000557675.5:n.421T>C
NM_013382.5:c.1331T>C , LRG_844t1:c.1331T>C	NP_037514.2:p.Ile444Thr
XM_011536675.1:c.1331T>C	XP_011534977.1:p.Ile444Thr
XM_011536676.1:c.998T>C	XP_011534978.1:p.Ile333Thr
XM_011536677.1:c.872T>C	XP_011534979.1:p.Ile291Thr
XM_011536678.1:c.1331T>C	XP_011534980.1:p.Ile444Thr
XM_011536679.1:c.425T>C	XP_011534981.1:p.Ile142Thr
XR_943416.1:n.1534T>C
XM_011536675.2:c.1331T>C	XP_011534977.1:p.Ile444Thr
XM_011536676.2:c.998T>C	XP_011534978.1:p.Ile333Thr
XM_011536677.3:c.872T>C	XP_011534979.1:p.Ile291Thr
XR_001750279.1:n.1531T>C
XR_001750282.1:n.1984T>C
XR_943416.3:n.1532T>C
NM_013382.6:c.1331T>C	NP_037514.2:p.Ile444Thr
NM_013382.7:c.1331T>C MANE Select	NP_037514.2:p.Ile444Thr