Canonical Allele Identifier: CA390517769

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753149G>A (hg19) ; chr14:g.77286806G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286806G>A , CM000676.2:g.77286806G>A	GRCh38
NC_000014.8:g.77753149G>A , CM000676.1:g.77753149G>A	GRCh37
NC_000014.7:g.76822902G>A	NCBI36
NG_008897.1:g.39077C>T , LRG_844:g.39077C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.811C>T	ENSP00000451967.2:p.His271Tyr
ENST00000682247.1:c.1270C>T	ENSP00000507213.1:p.His424Tyr
ENST00000682382.1:c.842C>T
ENST00000682395.1:n.1448C>T
ENST00000682459.1:n.973C>T
ENST00000682467.1:c.1270C>T	ENSP00000508062.1:p.His424Tyr
ENST00000682706.1:n.47C>T
ENST00000682795.1:c.1270C>T	ENSP00000507574.1:p.His424Tyr
ENST00000682895.1:n.986C>T
ENST00000682955.1:n.558C>T
ENST00000683188.1:c.1245C>T
ENST00000683328.1:c.263C>T	ENSP00000508096.1:n.263C>T
ENST00000683380.1:n.934C>T
ENST00000683828.1:c.979C>T
ENST00000684259.1:n.1121C>T
ENST00000684444.1:c.17C>T
ENST00000684549.1:n.821C>T
ENST00000261534.9:c.1270C>T MANE Select	ENSP00000261534.4:p.His424Tyr
ENST00000261534.8:c.1270C>T	ENSP00000261534.4:p.His424Tyr
ENST00000452340.7:n.1293C>T
ENST00000553880.5:n.141C>T
ENST00000554767.5:n.2056C>T
ENST00000554884.5:n.262C>T
ENST00000556404.1:n.404C>T
ENST00000556851.1:n.306C>T
ENST00000557675.5:n.360C>T
NM_013382.5:c.1270C>T , LRG_844t1:c.1270C>T	NP_037514.2:p.His424Tyr
XM_011536675.1:c.1270C>T	XP_011534977.1:p.His424Tyr
XM_011536676.1:c.937C>T	XP_011534978.1:p.His313Tyr
XM_011536677.1:c.811C>T	XP_011534979.1:p.His271Tyr
XM_011536678.1:c.1270C>T	XP_011534980.1:p.His424Tyr
XM_011536679.1:c.364C>T	XP_011534981.1:p.His122Tyr
XR_943416.1:n.1473C>T
XM_011536675.2:c.1270C>T	XP_011534977.1:p.His424Tyr
XM_011536676.2:c.937C>T	XP_011534978.1:p.His313Tyr
XM_011536677.3:c.811C>T	XP_011534979.1:p.His271Tyr
XR_001750279.1:n.1470C>T
XR_001750282.1:n.1923C>T
XR_943416.3:n.1471C>T
NM_013382.6:c.1270C>T	NP_037514.2:p.His424Tyr
NM_013382.7:c.1270C>T MANE Select	NP_037514.2:p.His424Tyr