Canonical Allele Identifier: CA390514164

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278839-C-T
• MyVariant Identifiers: chr14:g.77745182C>T (hg19) ; chr14:g.77278839C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278839C>T , CM000676.2:g.77278839C>T	GRCh38
NC_000014.8:g.77745182C>T , CM000676.1:g.77745182C>T	GRCh37
NC_000014.7:g.76814935C>T	NCBI36
NG_008897.1:g.47044G>A , LRG_844:g.47044G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.847G>A
ENST00000556394.2:c.1463G>A	ENSP00000451967.2:p.Gly488Asp
ENST00000682128.1:c.223G>A	ENSP00000506976.1:n.223G>A
ENST00000682247.1:c.1911G>A	ENSP00000507213.1:p.Arg637=
ENST00000682395.1:n.2386G>A
ENST00000682459.1:n.1625G>A
ENST00000682467.1:c.1892-331G>A	ENSP00000508062.1:n.1892-331G>A
ENST00000682615.1:n.276G>A
ENST00000682795.1:c.2069G>A	ENSP00000507574.1:p.Gly690Asp
ENST00000682895.1:n.1638G>A
ENST00000682955.1:n.1496G>A
ENST00000683095.1:c.328G>A	ENSP00000508040.1:n.328G>A
ENST00000683188.1:c.2183G>A
ENST00000683380.1:n.1586G>A
ENST00000683828.1:c.1631G>A
ENST00000683907.1:c.187G>A	ENSP00000507754.1:p.Ala63Thr
ENST00000684172.1:c.298G>A	ENSP00000508391.1:n.298G>A
ENST00000684259.1:n.3689G>A
ENST00000684538.1:n.1301G>A
ENST00000684549.1:n.1473G>A
ENST00000261534.9:c.1922G>A MANE Select	ENSP00000261534.4:p.Gly641Asp
ENST00000261534.8:c.1922G>A	ENSP00000261534.4:p.Gly641Asp
ENST00000452340.7:n.2898G>A
ENST00000554767.5:n.2708G>A
ENST00000555134.1:n.847G>A
ENST00000555710.1:c.283G>A	ENSP00000451730.1:n.283G>A
ENST00000556171.1:c.514G>A
ENST00000556394.1:c.88-331G>A
ENST00000556446.1:n.223G>A
ENST00000602717.5:c.137G>A	ENSP00000487704.1:p.Gly46Asp
NM_013382.5:c.1922G>A , LRG_844t1:c.1922G>A	NP_037514.2:p.Gly641Asp
XM_011536675.1:c.2111G>A	XP_011534977.1:p.Gly704Asp
XM_011536676.1:c.1778G>A	XP_011534978.1:p.Gly593Asp
XM_011536677.1:c.1652G>A	XP_011534979.1:p.Gly551Asp
XM_011536679.1:c.1205G>A	XP_011534981.1:p.Gly402Asp
XR_943416.1:n.2175G>A
XM_011536675.2:c.2111G>A	XP_011534977.1:p.Gly704Asp
XM_011536676.2:c.1778G>A	XP_011534978.1:p.Gly593Asp
XM_011536677.3:c.1652G>A	XP_011534979.1:p.Gly551Asp
XR_001750279.1:n.2208G>A
XR_001750282.1:n.2861G>A
XR_943416.3:n.2173G>A
NM_013382.6:c.1922G>A	NP_037514.2:p.Gly641Asp
NM_013382.7:c.1922G>A MANE Select	NP_037514.2:p.Gly641Asp