Canonical Allele Identifier: CA390517639

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753091C>A (hg19) ; chr14:g.77286748C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286748C>A , CM000676.2:g.77286748C>A	GRCh38
NC_000014.8:g.77753091C>A , CM000676.1:g.77753091C>A	GRCh37
NC_000014.7:g.76822844C>A	NCBI36
NG_008897.1:g.39135G>T , LRG_844:g.39135G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.869G>T	ENSP00000451967.2:p.Gly290Val
ENST00000682247.1:c.1328G>T	ENSP00000507213.1:p.Gly443Val
ENST00000682382.1:c.900G>T
ENST00000682395.1:n.1506G>T
ENST00000682459.1:n.1031G>T
ENST00000682467.1:c.1328G>T	ENSP00000508062.1:p.Gly443Val
ENST00000682706.1:n.105G>T
ENST00000682795.1:c.1328G>T	ENSP00000507574.1:p.Gly443Val
ENST00000682895.1:n.1044G>T
ENST00000682955.1:n.616G>T
ENST00000683188.1:c.1303G>T
ENST00000683328.1:c.321G>T	ENSP00000508096.1:n.321G>T
ENST00000683380.1:n.992G>T
ENST00000683828.1:c.1037G>T
ENST00000684259.1:n.1179G>T
ENST00000684444.1:c.75G>T
ENST00000684549.1:n.879G>T
ENST00000261534.9:c.1328G>T MANE Select	ENSP00000261534.4:p.Gly443Val
ENST00000261534.8:c.1328G>T	ENSP00000261534.4:p.Gly443Val
ENST00000452340.7:n.1351G>T
ENST00000553880.5:n.199G>T
ENST00000554767.5:n.2114G>T
ENST00000554884.5:n.320G>T
ENST00000556404.1:n.462G>T
ENST00000556851.1:n.364G>T
ENST00000557675.5:n.418G>T
NM_013382.5:c.1328G>T , LRG_844t1:c.1328G>T	NP_037514.2:p.Gly443Val
XM_011536675.1:c.1328G>T	XP_011534977.1:p.Gly443Val
XM_011536676.1:c.995G>T	XP_011534978.1:p.Gly332Val
XM_011536677.1:c.869G>T	XP_011534979.1:p.Gly290Val
XM_011536678.1:c.1328G>T	XP_011534980.1:p.Gly443Val
XM_011536679.1:c.422G>T	XP_011534981.1:p.Gly141Val
XR_943416.1:n.1531G>T
XM_011536675.2:c.1328G>T	XP_011534977.1:p.Gly443Val
XM_011536676.2:c.995G>T	XP_011534978.1:p.Gly332Val
XM_011536677.3:c.869G>T	XP_011534979.1:p.Gly290Val
XR_001750279.1:n.1528G>T
XR_001750282.1:n.1981G>T
XR_943416.3:n.1529G>T
NM_013382.6:c.1328G>T	NP_037514.2:p.Gly443Val
NM_013382.7:c.1328G>T MANE Select	NP_037514.2:p.Gly443Val