Canonical Allele Identifier: CA487509379

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745130G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278787G>A , CM000676.2:g.77278787G>A	GRCh38
NC_000014.8:g.77745130G>A , CM000676.1:g.77745130G>A	GRCh37
NC_000014.7:g.76814883G>A	NCBI36
NG_008897.1:g.47096C>T , LRG_844:g.47096C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.899C>T
ENST00000556394.2:c.1515C>T	ENSP00000451967.2:p.Gly505=
ENST00000682128.1:c.275C>T	ENSP00000506976.1:n.275C>T
ENST00000682247.1:c.1963C>T	ENSP00000507213.1:p.Pro655Ser
ENST00000682395.1:n.2438C>T
ENST00000682459.1:n.1677C>T
ENST00000682467.1:c.1892-279C>T	ENSP00000508062.1:n.1892-279C>T
ENST00000682615.1:n.328C>T
ENST00000682795.1:c.2121C>T	ENSP00000507574.1:p.Gly707=
ENST00000682895.1:n.1690C>T
ENST00000682955.1:n.1548C>T
ENST00000683095.1:c.380C>T	ENSP00000508040.1:n.380C>T
ENST00000683188.1:c.2235C>T
ENST00000683380.1:n.1638C>T
ENST00000683828.1:c.1683C>T
ENST00000683907.1:c.239C>T	ENSP00000507754.1:n.239C>T
ENST00000684172.1:c.350C>T	ENSP00000508391.1:n.350C>T
ENST00000684259.1:n.3741C>T
ENST00000684538.1:n.1353C>T
ENST00000684549.1:n.1525C>T
ENST00000261534.9:c.1974C>T MANE Select	ENSP00000261534.4:p.Gly658=
ENST00000261534.8:c.1974C>T	ENSP00000261534.4:p.Gly658=
ENST00000452340.7:n.2950C>T
ENST00000554767.5:n.2760C>T
ENST00000555710.1:c.335C>T	ENSP00000451730.1:n.335C>T
ENST00000556171.1:c.566C>T
ENST00000556394.1:c.88-279C>T
ENST00000556446.1:n.275C>T
ENST00000602717.5:c.189C>T	ENSP00000487704.1:p.Gly63=
NM_013382.5:c.1974C>T , LRG_844t1:c.1974C>T	NP_037514.2:p.Gly658=
XM_011536675.1:c.2163C>T	XP_011534977.1:p.Gly721=
XM_011536676.1:c.1830C>T	XP_011534978.1:p.Gly610=
XM_011536677.1:c.1704C>T	XP_011534979.1:p.Gly568=
XM_011536679.1:c.1257C>T	XP_011534981.1:p.Gly419=
XR_943416.1:n.2227C>T
XM_011536675.2:c.2163C>T	XP_011534977.1:p.Gly721=
XM_011536676.2:c.1830C>T	XP_011534978.1:p.Gly610=
XM_011536677.3:c.1704C>T	XP_011534979.1:p.Gly568=
XR_001750279.1:n.2260C>T
XR_001750282.1:n.2913C>T
XR_943416.3:n.2225C>T
NM_013382.6:c.1974C>T	NP_037514.2:p.Gly658=
NM_013382.7:c.1974C>T MANE Select	NP_037514.2:p.Gly658=