Canonical Allele Identifier: CA390514172

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745183C>A (hg19) ; chr14:g.77278840C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278840C>A , CM000676.2:g.77278840C>A	GRCh38
NC_000014.8:g.77745183C>A , CM000676.1:g.77745183C>A	GRCh37
NC_000014.7:g.76814936C>A	NCBI36
NG_008897.1:g.47043G>T , LRG_844:g.47043G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.846G>T
ENST00000556394.2:c.1462G>T	ENSP00000451967.2:p.Gly488Cys
ENST00000682128.1:c.222G>T	ENSP00000506976.1:n.222G>T
ENST00000682247.1:c.1910G>T	ENSP00000507213.1:p.Arg637Leu
ENST00000682395.1:n.2385G>T
ENST00000682459.1:n.1624G>T
ENST00000682467.1:c.1892-332G>T	ENSP00000508062.1:n.1892-332G>T
ENST00000682615.1:n.275G>T
ENST00000682795.1:c.2068G>T	ENSP00000507574.1:p.Gly690Cys
ENST00000682895.1:n.1637G>T
ENST00000682955.1:n.1495G>T
ENST00000683095.1:c.327G>T	ENSP00000508040.1:n.327G>T
ENST00000683188.1:c.2182G>T
ENST00000683380.1:n.1585G>T
ENST00000683828.1:c.1630G>T
ENST00000683907.1:c.186G>T	ENSP00000507754.1:p.Ala62=
ENST00000684172.1:c.297G>T	ENSP00000508391.1:n.297G>T
ENST00000684259.1:n.3688G>T
ENST00000684538.1:n.1300G>T
ENST00000684549.1:n.1472G>T
ENST00000261534.9:c.1921G>T MANE Select	ENSP00000261534.4:p.Gly641Cys
ENST00000261534.8:c.1921G>T	ENSP00000261534.4:p.Gly641Cys
ENST00000452340.7:n.2897G>T
ENST00000554767.5:n.2707G>T
ENST00000555134.1:n.846G>T
ENST00000555710.1:c.282G>T	ENSP00000451730.1:n.282G>T
ENST00000556171.1:c.513G>T
ENST00000556394.1:c.88-332G>T
ENST00000556446.1:n.222G>T
ENST00000602717.5:c.136G>T	ENSP00000487704.1:p.Gly46Cys
NM_013382.5:c.1921G>T , LRG_844t1:c.1921G>T	NP_037514.2:p.Gly641Cys
XM_011536675.1:c.2110G>T	XP_011534977.1:p.Gly704Cys
XM_011536676.1:c.1777G>T	XP_011534978.1:p.Gly593Cys
XM_011536677.1:c.1651G>T	XP_011534979.1:p.Gly551Cys
XM_011536679.1:c.1204G>T	XP_011534981.1:p.Gly402Cys
XR_943416.1:n.2174G>T
XM_011536675.2:c.2110G>T	XP_011534977.1:p.Gly704Cys
XM_011536676.2:c.1777G>T	XP_011534978.1:p.Gly593Cys
XM_011536677.3:c.1651G>T	XP_011534979.1:p.Gly551Cys
XR_001750279.1:n.2207G>T
XR_001750282.1:n.2860G>T
XR_943416.3:n.2172G>T
NM_013382.6:c.1921G>T	NP_037514.2:p.Gly641Cys
NM_013382.7:c.1921G>T MANE Select	NP_037514.2:p.Gly641Cys