Canonical Allele Identifier: CA390517659

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753101T>G (hg19) ; chr14:g.77286758T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286758T>G , CM000676.2:g.77286758T>G	GRCh38
NC_000014.8:g.77753101T>G , CM000676.1:g.77753101T>G	GRCh37
NC_000014.7:g.76822854T>G	NCBI36
NG_008897.1:g.39125A>C , LRG_844:g.39125A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.859A>C	ENSP00000451967.2:p.Thr287Pro
ENST00000682247.1:c.1318A>C	ENSP00000507213.1:p.Thr440Pro
ENST00000682382.1:c.890A>C
ENST00000682395.1:n.1496A>C
ENST00000682459.1:n.1021A>C
ENST00000682467.1:c.1318A>C	ENSP00000508062.1:p.Thr440Pro
ENST00000682706.1:n.95A>C
ENST00000682795.1:c.1318A>C	ENSP00000507574.1:p.Thr440Pro
ENST00000682895.1:n.1034A>C
ENST00000682955.1:n.606A>C
ENST00000683188.1:c.1293A>C
ENST00000683328.1:c.311A>C	ENSP00000508096.1:n.311A>C
ENST00000683380.1:n.982A>C
ENST00000683828.1:c.1027A>C
ENST00000684259.1:n.1169A>C
ENST00000684444.1:c.65A>C
ENST00000684549.1:n.869A>C
ENST00000261534.9:c.1318A>C MANE Select	ENSP00000261534.4:p.Thr440Pro
ENST00000261534.8:c.1318A>C	ENSP00000261534.4:p.Thr440Pro
ENST00000452340.7:n.1341A>C
ENST00000553880.5:n.189A>C
ENST00000554767.5:n.2104A>C
ENST00000554884.5:n.310A>C
ENST00000556404.1:n.452A>C
ENST00000556851.1:n.354A>C
ENST00000557675.5:n.408A>C
NM_013382.5:c.1318A>C , LRG_844t1:c.1318A>C	NP_037514.2:p.Thr440Pro
XM_011536675.1:c.1318A>C	XP_011534977.1:p.Thr440Pro
XM_011536676.1:c.985A>C	XP_011534978.1:p.Thr329Pro
XM_011536677.1:c.859A>C	XP_011534979.1:p.Thr287Pro
XM_011536678.1:c.1318A>C	XP_011534980.1:p.Thr440Pro
XM_011536679.1:c.412A>C	XP_011534981.1:p.Thr138Pro
XR_943416.1:n.1521A>C
XM_011536675.2:c.1318A>C	XP_011534977.1:p.Thr440Pro
XM_011536676.2:c.985A>C	XP_011534978.1:p.Thr329Pro
XM_011536677.3:c.859A>C	XP_011534979.1:p.Thr287Pro
XR_001750279.1:n.1518A>C
XR_001750282.1:n.1971A>C
XR_943416.3:n.1519A>C
NM_013382.6:c.1318A>C	NP_037514.2:p.Thr440Pro
NM_013382.7:c.1318A>C MANE Select	NP_037514.2:p.Thr440Pro