Canonical Allele Identifier: CA487509407

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278483-C-T
• MyVariant Identifiers: chr14:g.77744826C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278483C>T , CM000676.2:g.77278483C>T	GRCh38
NC_000014.8:g.77744826C>T , CM000676.1:g.77744826C>T	GRCh37
NC_000014.7:g.76814579C>T	NCBI36
NG_008897.1:g.47400G>A , LRG_844:g.47400G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.983G>A
ENST00000556394.2:c.1599G>A	ENSP00000451967.2:p.Arg533=
ENST00000682247.1:c.2047G>A	ENSP00000507213.1:p.Ala683Thr
ENST00000682395.1:n.2522G>A
ENST00000682459.1:n.1761G>A
ENST00000682467.1:c.1917G>A	ENSP00000508062.1:p.Arg639=
ENST00000682795.1:c.2205G>A	ENSP00000507574.1:p.Arg735=
ENST00000682895.1:n.1774G>A
ENST00000682955.1:n.1632G>A
ENST00000683188.1:c.2319G>A
ENST00000683380.1:n.1722G>A
ENST00000683907.1:c.323G>A	ENSP00000507754.1:n.323G>A
ENST00000684259.1:n.3825G>A
ENST00000684538.1:n.1437G>A
ENST00000684549.1:n.1609G>A
ENST00000261534.9:c.2058G>A MANE Select	ENSP00000261534.4:p.Arg686=
ENST00000261534.8:c.2058G>A	ENSP00000261534.4:p.Arg686=
ENST00000452340.7:n.3034G>A
ENST00000554767.5:n.2844G>A
ENST00000555710.1:c.419G>A	ENSP00000451730.1:n.419G>A
ENST00000556394.1:c.113G>A
ENST00000556446.1:n.359G>A
ENST00000602717.5:c.273G>A	ENSP00000487704.1:p.Arg91=
NM_013382.5:c.2058G>A , LRG_844t1:c.2058G>A	NP_037514.2:p.Arg686=
XM_011536675.1:c.2247G>A	XP_011534977.1:p.Arg749=
XM_011536676.1:c.1914G>A	XP_011534978.1:p.Arg638=
XM_011536677.1:c.1788G>A	XP_011534979.1:p.Arg596=
XM_011536679.1:c.1341G>A	XP_011534981.1:p.Arg447=
XR_943416.1:n.2311G>A
XM_011536675.2:c.2247G>A	XP_011534977.1:p.Arg749=
XM_011536676.2:c.1914G>A	XP_011534978.1:p.Arg638=
XM_011536677.3:c.1788G>A	XP_011534979.1:p.Arg596=
XR_001750279.1:n.2344G>A
XR_001750282.1:n.2997G>A
XR_943416.3:n.2309G>A
NM_013382.6:c.2058G>A	NP_037514.2:p.Arg686=
NM_013382.7:c.2058G>A MANE Select	NP_037514.2:p.Arg686=