Canonical Allele Identifier: CA390517646

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753094T>A (hg19) ; chr14:g.77286751T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286751T>A , CM000676.2:g.77286751T>A	GRCh38
NC_000014.8:g.77753094T>A , CM000676.1:g.77753094T>A	GRCh37
NC_000014.7:g.76822847T>A	NCBI36
NG_008897.1:g.39132A>T , LRG_844:g.39132A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.866A>T	ENSP00000451967.2:p.Tyr289Phe
ENST00000682247.1:c.1325A>T	ENSP00000507213.1:p.Tyr442Phe
ENST00000682382.1:c.897A>T
ENST00000682395.1:n.1503A>T
ENST00000682459.1:n.1028A>T
ENST00000682467.1:c.1325A>T	ENSP00000508062.1:p.Tyr442Phe
ENST00000682706.1:n.102A>T
ENST00000682795.1:c.1325A>T	ENSP00000507574.1:p.Tyr442Phe
ENST00000682895.1:n.1041A>T
ENST00000682955.1:n.613A>T
ENST00000683188.1:c.1300A>T
ENST00000683328.1:c.318A>T	ENSP00000508096.1:n.318A>T
ENST00000683380.1:n.989A>T
ENST00000683828.1:c.1034A>T
ENST00000684259.1:n.1176A>T
ENST00000684444.1:c.72A>T
ENST00000684549.1:n.876A>T
ENST00000261534.9:c.1325A>T MANE Select	ENSP00000261534.4:p.Tyr442Phe
ENST00000261534.8:c.1325A>T	ENSP00000261534.4:p.Tyr442Phe
ENST00000452340.7:n.1348A>T
ENST00000553880.5:n.196A>T
ENST00000554767.5:n.2111A>T
ENST00000554884.5:n.317A>T
ENST00000556404.1:n.459A>T
ENST00000556851.1:n.361A>T
ENST00000557675.5:n.415A>T
NM_013382.5:c.1325A>T , LRG_844t1:c.1325A>T	NP_037514.2:p.Tyr442Phe
XM_011536675.1:c.1325A>T	XP_011534977.1:p.Tyr442Phe
XM_011536676.1:c.992A>T	XP_011534978.1:p.Tyr331Phe
XM_011536677.1:c.866A>T	XP_011534979.1:p.Tyr289Phe
XM_011536678.1:c.1325A>T	XP_011534980.1:p.Tyr442Phe
XM_011536679.1:c.419A>T	XP_011534981.1:p.Tyr140Phe
XR_943416.1:n.1528A>T
XM_011536675.2:c.1325A>T	XP_011534977.1:p.Tyr442Phe
XM_011536676.2:c.992A>T	XP_011534978.1:p.Tyr331Phe
XM_011536677.3:c.866A>T	XP_011534979.1:p.Tyr289Phe
XR_001750279.1:n.1525A>T
XR_001750282.1:n.1978A>T
XR_943416.3:n.1526A>T
NM_013382.6:c.1325A>T	NP_037514.2:p.Tyr442Phe
NM_013382.7:c.1325A>T MANE Select	NP_037514.2:p.Tyr442Phe