Canonical Allele Identifier: CA487509411

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278485-G-T
• MyVariant Identifiers: chr14:g.77744828G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278485G>T , CM000676.2:g.77278485G>T	GRCh38
NC_000014.8:g.77744828G>T , CM000676.1:g.77744828G>T	GRCh37
NC_000014.7:g.76814581G>T	NCBI36
NG_008897.1:g.47398C>A , LRG_844:g.47398C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.981C>A
ENST00000556394.2:c.1597C>A	ENSP00000451967.2:p.Arg533=
ENST00000682247.1:c.2045C>A	ENSP00000507213.1:p.Ala682Glu
ENST00000682395.1:n.2520C>A
ENST00000682459.1:n.1759C>A
ENST00000682467.1:c.1915C>A	ENSP00000508062.1:p.Arg639=
ENST00000682795.1:c.2203C>A	ENSP00000507574.1:p.Arg735=
ENST00000682895.1:n.1772C>A
ENST00000682955.1:n.1630C>A
ENST00000683188.1:c.2317C>A
ENST00000683380.1:n.1720C>A
ENST00000683907.1:c.321C>A	ENSP00000507754.1:n.321C>A
ENST00000684259.1:n.3823C>A
ENST00000684538.1:n.1435C>A
ENST00000684549.1:n.1607C>A
ENST00000261534.9:c.2056C>A MANE Select	ENSP00000261534.4:p.Arg686=
ENST00000261534.8:c.2056C>A	ENSP00000261534.4:p.Arg686=
ENST00000452340.7:n.3032C>A
ENST00000554767.5:n.2842C>A
ENST00000555710.1:c.417C>A	ENSP00000451730.1:n.417C>A
ENST00000556394.1:c.111C>A
ENST00000556446.1:n.357C>A
ENST00000602717.5:c.271C>A	ENSP00000487704.1:p.Arg91=
NM_013382.5:c.2056C>A , LRG_844t1:c.2056C>A	NP_037514.2:p.Arg686=
XM_011536675.1:c.2245C>A	XP_011534977.1:p.Arg749=
XM_011536676.1:c.1912C>A	XP_011534978.1:p.Arg638=
XM_011536677.1:c.1786C>A	XP_011534979.1:p.Arg596=
XM_011536679.1:c.1339C>A	XP_011534981.1:p.Arg447=
XR_943416.1:n.2309C>A
XM_011536675.2:c.2245C>A	XP_011534977.1:p.Arg749=
XM_011536676.2:c.1912C>A	XP_011534978.1:p.Arg638=
XM_011536677.3:c.1786C>A	XP_011534979.1:p.Arg596=
XR_001750279.1:n.2342C>A
XR_001750282.1:n.2995C>A
XR_943416.3:n.2307C>A
NM_013382.6:c.2056C>A	NP_037514.2:p.Arg686=
NM_013382.7:c.2056C>A MANE Select	NP_037514.2:p.Arg686=