Canonical Allele Identifier: CA487509444

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278501-C-A
• MyVariant Identifiers: chr14:g.77744844C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278501C>A , CM000676.2:g.77278501C>A	GRCh38
NC_000014.8:g.77744844C>A , CM000676.1:g.77744844C>A	GRCh37
NC_000014.7:g.76814597C>A	NCBI36
NG_008897.1:g.47382G>T , LRG_844:g.47382G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.965G>T
ENST00000556394.2:c.1581G>T	ENSP00000451967.2:p.Leu527=
ENST00000682247.1:c.2029G>T	ENSP00000507213.1:p.Val677Leu
ENST00000682395.1:n.2504G>T
ENST00000682459.1:n.1743G>T
ENST00000682467.1:c.1899G>T	ENSP00000508062.1:p.Leu633=
ENST00000682795.1:c.2187G>T	ENSP00000507574.1:p.Leu729=
ENST00000682895.1:n.1756G>T
ENST00000682955.1:n.1614G>T
ENST00000683188.1:c.2301G>T
ENST00000683380.1:n.1704G>T
ENST00000683907.1:c.305G>T	ENSP00000507754.1:n.305G>T
ENST00000684259.1:n.3807G>T
ENST00000684538.1:n.1419G>T
ENST00000684549.1:n.1591G>T
ENST00000261534.9:c.2040G>T MANE Select	ENSP00000261534.4:p.Leu680=
ENST00000261534.8:c.2040G>T	ENSP00000261534.4:p.Leu680=
ENST00000452340.7:n.3016G>T
ENST00000554767.5:n.2826G>T
ENST00000555710.1:c.401G>T	ENSP00000451730.1:n.401G>T
ENST00000556394.1:c.95G>T
ENST00000556446.1:n.341G>T
ENST00000602717.5:c.255G>T	ENSP00000487704.1:p.Leu85=
NM_013382.5:c.2040G>T , LRG_844t1:c.2040G>T	NP_037514.2:p.Leu680=
XM_011536675.1:c.2229G>T	XP_011534977.1:p.Leu743=
XM_011536676.1:c.1896G>T	XP_011534978.1:p.Leu632=
XM_011536677.1:c.1770G>T	XP_011534979.1:p.Leu590=
XM_011536679.1:c.1323G>T	XP_011534981.1:p.Leu441=
XR_943416.1:n.2293G>T
XM_011536675.2:c.2229G>T	XP_011534977.1:p.Leu743=
XM_011536676.2:c.1896G>T	XP_011534978.1:p.Leu632=
XM_011536677.3:c.1770G>T	XP_011534979.1:p.Leu590=
XR_001750279.1:n.2326G>T
XR_001750282.1:n.2979G>T
XR_943416.3:n.2291G>T
NM_013382.6:c.2040G>T	NP_037514.2:p.Leu680=
NM_013382.7:c.2040G>T MANE Select	NP_037514.2:p.Leu680=