Canonical Allele Identifier: CA390517678

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753110A>T (hg19) ; chr14:g.77286767A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286767A>T , CM000676.2:g.77286767A>T	GRCh38
NC_000014.8:g.77753110A>T , CM000676.1:g.77753110A>T	GRCh37
NC_000014.7:g.76822863A>T	NCBI36
NG_008897.1:g.39116T>A , LRG_844:g.39116T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.850T>A	ENSP00000451967.2:p.Tyr284Asn
ENST00000682247.1:c.1309T>A	ENSP00000507213.1:p.Tyr437Asn
ENST00000682382.1:c.881T>A
ENST00000682395.1:n.1487T>A
ENST00000682459.1:n.1012T>A
ENST00000682467.1:c.1309T>A	ENSP00000508062.1:p.Tyr437Asn
ENST00000682706.1:n.86T>A
ENST00000682795.1:c.1309T>A	ENSP00000507574.1:p.Tyr437Asn
ENST00000682895.1:n.1025T>A
ENST00000682955.1:n.597T>A
ENST00000683188.1:c.1284T>A
ENST00000683328.1:c.302T>A	ENSP00000508096.1:n.302T>A
ENST00000683380.1:n.973T>A
ENST00000683828.1:c.1018T>A
ENST00000684259.1:n.1160T>A
ENST00000684444.1:c.56T>A
ENST00000684549.1:n.860T>A
ENST00000261534.9:c.1309T>A MANE Select	ENSP00000261534.4:p.Tyr437Asn
ENST00000261534.8:c.1309T>A	ENSP00000261534.4:p.Tyr437Asn
ENST00000452340.7:n.1332T>A
ENST00000553880.5:n.180T>A
ENST00000554767.5:n.2095T>A
ENST00000554884.5:n.301T>A
ENST00000556404.1:n.443T>A
ENST00000556851.1:n.345T>A
ENST00000557675.5:n.399T>A
NM_013382.5:c.1309T>A , LRG_844t1:c.1309T>A	NP_037514.2:p.Tyr437Asn
XM_011536675.1:c.1309T>A	XP_011534977.1:p.Tyr437Asn
XM_011536676.1:c.976T>A	XP_011534978.1:p.Tyr326Asn
XM_011536677.1:c.850T>A	XP_011534979.1:p.Tyr284Asn
XM_011536678.1:c.1309T>A	XP_011534980.1:p.Tyr437Asn
XM_011536679.1:c.403T>A	XP_011534981.1:p.Tyr135Asn
XR_943416.1:n.1512T>A
XM_011536675.2:c.1309T>A	XP_011534977.1:p.Tyr437Asn
XM_011536676.2:c.976T>A	XP_011534978.1:p.Tyr326Asn
XM_011536677.3:c.850T>A	XP_011534979.1:p.Tyr284Asn
XR_001750279.1:n.1509T>A
XR_001750282.1:n.1962T>A
XR_943416.3:n.1510T>A
NM_013382.6:c.1309T>A	NP_037514.2:p.Tyr437Asn
NM_013382.7:c.1309T>A MANE Select	NP_037514.2:p.Tyr437Asn