Canonical Allele Identifier: CA390517719

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753130G>A (hg19) ; chr14:g.77286787G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286787G>A , CM000676.2:g.77286787G>A	GRCh38
NC_000014.8:g.77753130G>A , CM000676.1:g.77753130G>A	GRCh37
NC_000014.7:g.76822883G>A	NCBI36
NG_008897.1:g.39096C>T , LRG_844:g.39096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.830C>T	ENSP00000451967.2:p.Ala277Val
ENST00000682247.1:c.1289C>T	ENSP00000507213.1:p.Ala430Val
ENST00000682382.1:c.861C>T
ENST00000682395.1:n.1467C>T
ENST00000682459.1:n.992C>T
ENST00000682467.1:c.1289C>T	ENSP00000508062.1:p.Ala430Val
ENST00000682706.1:n.66C>T
ENST00000682795.1:c.1289C>T	ENSP00000507574.1:p.Ala430Val
ENST00000682895.1:n.1005C>T
ENST00000682955.1:n.577C>T
ENST00000683188.1:c.1264C>T
ENST00000683328.1:c.282C>T	ENSP00000508096.1:n.282C>T
ENST00000683380.1:n.953C>T
ENST00000683828.1:c.998C>T
ENST00000684259.1:n.1140C>T
ENST00000684444.1:c.36C>T
ENST00000684549.1:n.840C>T
ENST00000261534.9:c.1289C>T MANE Select	ENSP00000261534.4:p.Ala430Val
ENST00000261534.8:c.1289C>T	ENSP00000261534.4:p.Ala430Val
ENST00000452340.7:n.1312C>T
ENST00000553880.5:n.160C>T
ENST00000554767.5:n.2075C>T
ENST00000554884.5:n.281C>T
ENST00000556404.1:n.423C>T
ENST00000556851.1:n.325C>T
ENST00000557675.5:n.379C>T
NM_013382.5:c.1289C>T , LRG_844t1:c.1289C>T	NP_037514.2:p.Ala430Val
XM_011536675.1:c.1289C>T	XP_011534977.1:p.Ala430Val
XM_011536676.1:c.956C>T	XP_011534978.1:p.Ala319Val
XM_011536677.1:c.830C>T	XP_011534979.1:p.Ala277Val
XM_011536678.1:c.1289C>T	XP_011534980.1:p.Ala430Val
XM_011536679.1:c.383C>T	XP_011534981.1:p.Ala128Val
XR_943416.1:n.1492C>T
XM_011536675.2:c.1289C>T	XP_011534977.1:p.Ala430Val
XM_011536676.2:c.956C>T	XP_011534978.1:p.Ala319Val
XM_011536677.3:c.830C>T	XP_011534979.1:p.Ala277Val
XR_001750279.1:n.1489C>T
XR_001750282.1:n.1942C>T
XR_943416.3:n.1490C>T
NM_013382.6:c.1289C>T	NP_037514.2:p.Ala430Val
NM_013382.7:c.1289C>T MANE Select	NP_037514.2:p.Ala430Val