Canonical Allele Identifier: CA263817485

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2937848
• ClinVar RCV Id: RCV003794478
• dbSNP Id: rs148146976
• MyVariant Identifiers: chr14:g.77745160T>G (hg19) ; chr14:g.77278817T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278817T>G , CM000676.2:g.77278817T>G	GRCh38
NC_000014.8:g.77745160T>G , CM000676.1:g.77745160T>G	GRCh37
NC_000014.7:g.76814913T>G	NCBI36
NG_008897.1:g.47066A>C , LRG_844:g.47066A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.869A>C
ENST00000556394.2:c.1485A>C	ENSP00000451967.2:p.Thr495=
ENST00000682128.1:c.245A>C	ENSP00000506976.1:n.245A>C
ENST00000682247.1:c.1933A>C	ENSP00000507213.1:p.Thr645Pro
ENST00000682395.1:n.2408A>C
ENST00000682459.1:n.1647A>C
ENST00000682467.1:c.1892-309A>C	ENSP00000508062.1:n.1892-309A>C
ENST00000682615.1:n.298A>C
ENST00000682795.1:c.2091A>C	ENSP00000507574.1:p.Thr697=
ENST00000682895.1:n.1660A>C
ENST00000682955.1:n.1518A>C
ENST00000683095.1:c.350A>C	ENSP00000508040.1:n.350A>C
ENST00000683188.1:c.2205A>C
ENST00000683380.1:n.1608A>C
ENST00000683828.1:c.1653A>C
ENST00000683907.1:c.209A>C	ENSP00000507754.1:p.His70Pro
ENST00000684172.1:c.320A>C	ENSP00000508391.1:n.320A>C
ENST00000684259.1:n.3711A>C
ENST00000684538.1:n.1323A>C
ENST00000684549.1:n.1495A>C
ENST00000261534.9:c.1944A>C MANE Select	ENSP00000261534.4:p.Thr648=
ENST00000261534.8:c.1944A>C	ENSP00000261534.4:p.Thr648=
ENST00000452340.7:n.2920A>C
ENST00000554767.5:n.2730A>C
ENST00000555134.1:n.869A>C
ENST00000555710.1:c.305A>C	ENSP00000451730.1:n.305A>C
ENST00000556171.1:c.536A>C
ENST00000556394.1:c.88-309A>C
ENST00000556446.1:n.245A>C
ENST00000602717.5:c.159A>C	ENSP00000487704.1:p.Thr53=
NM_013382.5:c.1944A>C , LRG_844t1:c.1944A>C	NP_037514.2:p.Thr648=
XM_011536675.1:c.2133A>C	XP_011534977.1:p.Thr711=
XM_011536676.1:c.1800A>C	XP_011534978.1:p.Thr600=
XM_011536677.1:c.1674A>C	XP_011534979.1:p.Thr558=
XM_011536679.1:c.1227A>C	XP_011534981.1:p.Thr409=
XR_943416.1:n.2197A>C
XM_011536675.2:c.2133A>C	XP_011534977.1:p.Thr711=
XM_011536676.2:c.1800A>C	XP_011534978.1:p.Thr600=
XM_011536677.3:c.1674A>C	XP_011534979.1:p.Thr558=
XR_001750279.1:n.2230A>C
XR_001750282.1:n.2883A>C
XR_943416.3:n.2195A>C
NM_013382.6:c.1944A>C	NP_037514.2:p.Thr648=
NM_013382.7:c.1944A>C MANE Select	NP_037514.2:p.Thr648=