Canonical Allele Identifier: CA390517739

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753137G>A (hg19) ; chr14:g.77286794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286794G>A , CM000676.2:g.77286794G>A	GRCh38
NC_000014.8:g.77753137G>A , CM000676.1:g.77753137G>A	GRCh37
NC_000014.7:g.76822890G>A	NCBI36
NG_008897.1:g.39089C>T , LRG_844:g.39089C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.823C>T	ENSP00000451967.2:p.His275Tyr
ENST00000682247.1:c.1282C>T	ENSP00000507213.1:p.His428Tyr
ENST00000682382.1:c.854C>T
ENST00000682395.1:n.1460C>T
ENST00000682459.1:n.985C>T
ENST00000682467.1:c.1282C>T	ENSP00000508062.1:p.His428Tyr
ENST00000682706.1:n.59C>T
ENST00000682795.1:c.1282C>T	ENSP00000507574.1:p.His428Tyr
ENST00000682895.1:n.998C>T
ENST00000682955.1:n.570C>T
ENST00000683188.1:c.1257C>T
ENST00000683328.1:c.275C>T	ENSP00000508096.1:n.275C>T
ENST00000683380.1:n.946C>T
ENST00000683828.1:c.991C>T
ENST00000684259.1:n.1133C>T
ENST00000684444.1:c.29C>T
ENST00000684549.1:n.833C>T
ENST00000261534.9:c.1282C>T MANE Select	ENSP00000261534.4:p.His428Tyr
ENST00000261534.8:c.1282C>T	ENSP00000261534.4:p.His428Tyr
ENST00000452340.7:n.1305C>T
ENST00000553880.5:n.153C>T
ENST00000554767.5:n.2068C>T
ENST00000554884.5:n.274C>T
ENST00000556404.1:n.416C>T
ENST00000556851.1:n.318C>T
ENST00000557675.5:n.372C>T
NM_013382.5:c.1282C>T , LRG_844t1:c.1282C>T	NP_037514.2:p.His428Tyr
XM_011536675.1:c.1282C>T	XP_011534977.1:p.His428Tyr
XM_011536676.1:c.949C>T	XP_011534978.1:p.His317Tyr
XM_011536677.1:c.823C>T	XP_011534979.1:p.His275Tyr
XM_011536678.1:c.1282C>T	XP_011534980.1:p.His428Tyr
XM_011536679.1:c.376C>T	XP_011534981.1:p.His126Tyr
XR_943416.1:n.1485C>T
XM_011536675.2:c.1282C>T	XP_011534977.1:p.His428Tyr
XM_011536676.2:c.949C>T	XP_011534978.1:p.His317Tyr
XM_011536677.3:c.823C>T	XP_011534979.1:p.His275Tyr
XR_001750279.1:n.1482C>T
XR_001750282.1:n.1935C>T
XR_943416.3:n.1483C>T
NM_013382.6:c.1282C>T	NP_037514.2:p.His428Tyr
NM_013382.7:c.1282C>T MANE Select	NP_037514.2:p.His428Tyr