Canonical Allele Identifier: CA487509385

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278474-G-T
• MyVariant Identifiers: chr14:g.77744817G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278474G>T , CM000676.2:g.77278474G>T	GRCh38
NC_000014.8:g.77744817G>T , CM000676.1:g.77744817G>T	GRCh37
NC_000014.7:g.76814570G>T	NCBI36
NG_008897.1:g.47409C>A , LRG_844:g.47409C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.992C>A
ENST00000556394.2:c.1608C>A	ENSP00000451967.2:p.Ala536=
ENST00000682247.1:c.2056C>A	ENSP00000507213.1:p.Leu686Met
ENST00000682395.1:n.2531C>A
ENST00000682459.1:n.1770C>A
ENST00000682467.1:c.1926C>A	ENSP00000508062.1:p.Ala642=
ENST00000682795.1:c.2214C>A	ENSP00000507574.1:p.Ala738=
ENST00000682895.1:n.1783C>A
ENST00000682955.1:n.1641C>A
ENST00000683188.1:c.2328C>A
ENST00000683380.1:n.1731C>A
ENST00000683907.1:c.332C>A	ENSP00000507754.1:n.332C>A
ENST00000684259.1:n.3834C>A
ENST00000684538.1:n.1446C>A
ENST00000684549.1:n.1618C>A
ENST00000261534.9:c.2067C>A MANE Select	ENSP00000261534.4:p.Ala689=
ENST00000261534.8:c.2067C>A	ENSP00000261534.4:p.Ala689=
ENST00000452340.7:n.3043C>A
ENST00000554767.5:n.2853C>A
ENST00000555710.1:c.428C>A	ENSP00000451730.1:n.428C>A
ENST00000556394.1:c.122C>A
ENST00000556446.1:n.368C>A
ENST00000602717.5:c.282C>A	ENSP00000487704.1:p.Ala94=
NM_013382.5:c.2067C>A , LRG_844t1:c.2067C>A	NP_037514.2:p.Ala689=
XM_011536675.1:c.2256C>A	XP_011534977.1:p.Ala752=
XM_011536676.1:c.1923C>A	XP_011534978.1:p.Ala641=
XM_011536677.1:c.1797C>A	XP_011534979.1:p.Ala599=
XM_011536679.1:c.1350C>A	XP_011534981.1:p.Ala450=
XR_943416.1:n.2320C>A
XM_011536675.2:c.2256C>A	XP_011534977.1:p.Ala752=
XM_011536676.2:c.1923C>A	XP_011534978.1:p.Ala641=
XM_011536677.3:c.1797C>A	XP_011534979.1:p.Ala599=
XR_001750279.1:n.2353C>A
XR_001750282.1:n.3006C>A
XR_943416.3:n.2318C>A
NM_013382.6:c.2067C>A	NP_037514.2:p.Ala689=
NM_013382.7:c.2067C>A MANE Select	NP_037514.2:p.Ala689=