Canonical Allele Identifier: CA487509566

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278856-G-T
• MyVariant Identifiers: chr14:g.77745199G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278856G>T , CM000676.2:g.77278856G>T	GRCh38
NC_000014.8:g.77745199G>T , CM000676.1:g.77745199G>T	GRCh37
NC_000014.7:g.76814952G>T	NCBI36
NG_008897.1:g.47027C>A , LRG_844:g.47027C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.830C>A
ENST00000556394.2:c.1446C>A	ENSP00000451967.2:p.Val482=
ENST00000682128.1:c.206C>A	ENSP00000506976.1:n.206C>A
ENST00000682247.1:c.1894C>A	ENSP00000507213.1:p.Pro632Thr
ENST00000682395.1:n.2369C>A
ENST00000682459.1:n.1608C>A
ENST00000682467.1:c.1892-348C>A	ENSP00000508062.1:n.1892-348C>A
ENST00000682615.1:n.259C>A
ENST00000682795.1:c.2052C>A	ENSP00000507574.1:p.Val684=
ENST00000682895.1:n.1621C>A
ENST00000682955.1:n.1479C>A
ENST00000683095.1:c.311C>A	ENSP00000508040.1:n.311C>A
ENST00000683188.1:c.2166C>A
ENST00000683380.1:n.1569C>A
ENST00000683828.1:c.1614C>A
ENST00000683907.1:c.170C>A	ENSP00000507754.1:p.Ser57Tyr
ENST00000684172.1:c.281C>A	ENSP00000508391.1:n.281C>A
ENST00000684259.1:n.3672C>A
ENST00000684538.1:n.1284C>A
ENST00000684549.1:n.1456C>A
ENST00000261534.9:c.1905C>A MANE Select	ENSP00000261534.4:p.Val635=
ENST00000261534.8:c.1905C>A	ENSP00000261534.4:p.Val635=
ENST00000452340.7:n.2881C>A
ENST00000554767.5:n.2691C>A
ENST00000555134.1:n.830C>A
ENST00000555710.1:c.266C>A	ENSP00000451730.1:n.266C>A
ENST00000556171.1:c.497C>A
ENST00000556394.1:c.88-348C>A
ENST00000556446.1:n.206C>A
ENST00000602717.5:c.120C>A	ENSP00000487704.1:p.Val40=
NM_013382.5:c.1905C>A , LRG_844t1:c.1905C>A	NP_037514.2:p.Val635=
XM_011536675.1:c.2094C>A	XP_011534977.1:p.Val698=
XM_011536676.1:c.1761C>A	XP_011534978.1:p.Val587=
XM_011536677.1:c.1635C>A	XP_011534979.1:p.Val545=
XM_011536679.1:c.1188C>A	XP_011534981.1:p.Val396=
XR_943416.1:n.2158C>A
XM_011536675.2:c.2094C>A	XP_011534977.1:p.Val698=
XM_011536676.2:c.1761C>A	XP_011534978.1:p.Val587=
XM_011536677.3:c.1635C>A	XP_011534979.1:p.Val545=
XR_001750279.1:n.2191C>A
XR_001750282.1:n.2844C>A
XR_943416.3:n.2156C>A
NM_013382.6:c.1905C>A	NP_037514.2:p.Val635=
NM_013382.7:c.1905C>A MANE Select	NP_037514.2:p.Val635=