Canonical Allele Identifier: CA487509394

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745138G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278795G>A , CM000676.2:g.77278795G>A	GRCh38
NC_000014.8:g.77745138G>A , CM000676.1:g.77745138G>A	GRCh37
NC_000014.7:g.76814891G>A	NCBI36
NG_008897.1:g.47088C>T , LRG_844:g.47088C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.891C>T
ENST00000556394.2:c.1507C>T	ENSP00000451967.2:p.Leu503=
ENST00000682128.1:c.267C>T	ENSP00000506976.1:n.267C>T
ENST00000682247.1:c.1955C>T	ENSP00000507213.1:p.Pro652Leu
ENST00000682395.1:n.2430C>T
ENST00000682459.1:n.1669C>T
ENST00000682467.1:c.1892-287C>T	ENSP00000508062.1:n.1892-287C>T
ENST00000682615.1:n.320C>T
ENST00000682795.1:c.2113C>T	ENSP00000507574.1:p.Leu705=
ENST00000682895.1:n.1682C>T
ENST00000682955.1:n.1540C>T
ENST00000683095.1:c.372C>T	ENSP00000508040.1:n.372C>T
ENST00000683188.1:c.2227C>T
ENST00000683380.1:n.1630C>T
ENST00000683828.1:c.1675C>T
ENST00000683907.1:c.231C>T	ENSP00000507754.1:p.Ser77=
ENST00000684172.1:c.342C>T	ENSP00000508391.1:n.342C>T
ENST00000684259.1:n.3733C>T
ENST00000684538.1:n.1345C>T
ENST00000684549.1:n.1517C>T
ENST00000261534.9:c.1966C>T MANE Select	ENSP00000261534.4:p.Leu656=
ENST00000261534.8:c.1966C>T	ENSP00000261534.4:p.Leu656=
ENST00000452340.7:n.2942C>T
ENST00000554767.5:n.2752C>T
ENST00000555710.1:c.327C>T	ENSP00000451730.1:n.327C>T
ENST00000556171.1:c.558C>T
ENST00000556394.1:c.88-287C>T
ENST00000556446.1:n.267C>T
ENST00000602717.5:c.181C>T	ENSP00000487704.1:p.Leu61=
NM_013382.5:c.1966C>T , LRG_844t1:c.1966C>T	NP_037514.2:p.Leu656=
XM_011536675.1:c.2155C>T	XP_011534977.1:p.Leu719=
XM_011536676.1:c.1822C>T	XP_011534978.1:p.Leu608=
XM_011536677.1:c.1696C>T	XP_011534979.1:p.Leu566=
XM_011536679.1:c.1249C>T	XP_011534981.1:p.Leu417=
XR_943416.1:n.2219C>T
XM_011536675.2:c.2155C>T	XP_011534977.1:p.Leu719=
XM_011536676.2:c.1822C>T	XP_011534978.1:p.Leu608=
XM_011536677.3:c.1696C>T	XP_011534979.1:p.Leu566=
XR_001750279.1:n.2252C>T
XR_001750282.1:n.2905C>T
XR_943416.3:n.2217C>T
NM_013382.6:c.1966C>T	NP_037514.2:p.Leu656=
NM_013382.7:c.1966C>T MANE Select	NP_037514.2:p.Leu656=