Canonical Allele Identifier: CA487509412

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278486-C-A
• MyVariant Identifiers: chr14:g.77744829C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278486C>A , CM000676.2:g.77278486C>A	GRCh38
NC_000014.8:g.77744829C>A , CM000676.1:g.77744829C>A	GRCh37
NC_000014.7:g.76814582C>A	NCBI36
NG_008897.1:g.47397G>T , LRG_844:g.47397G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.980G>T
ENST00000556394.2:c.1596G>T	ENSP00000451967.2:p.Leu532=
ENST00000682247.1:c.2044G>T	ENSP00000507213.1:p.Ala682Ser
ENST00000682395.1:n.2519G>T
ENST00000682459.1:n.1758G>T
ENST00000682467.1:c.1914G>T	ENSP00000508062.1:p.Leu638=
ENST00000682795.1:c.2202G>T	ENSP00000507574.1:p.Leu734=
ENST00000682895.1:n.1771G>T
ENST00000682955.1:n.1629G>T
ENST00000683188.1:c.2316G>T
ENST00000683380.1:n.1719G>T
ENST00000683907.1:c.320G>T	ENSP00000507754.1:n.320G>T
ENST00000684259.1:n.3822G>T
ENST00000684538.1:n.1434G>T
ENST00000684549.1:n.1606G>T
ENST00000261534.9:c.2055G>T MANE Select	ENSP00000261534.4:p.Leu685=
ENST00000261534.8:c.2055G>T	ENSP00000261534.4:p.Leu685=
ENST00000452340.7:n.3031G>T
ENST00000554767.5:n.2841G>T
ENST00000555710.1:c.416G>T	ENSP00000451730.1:n.416G>T
ENST00000556394.1:c.110G>T
ENST00000556446.1:n.356G>T
ENST00000602717.5:c.270G>T	ENSP00000487704.1:p.Leu90=
NM_013382.5:c.2055G>T , LRG_844t1:c.2055G>T	NP_037514.2:p.Leu685=
XM_011536675.1:c.2244G>T	XP_011534977.1:p.Leu748=
XM_011536676.1:c.1911G>T	XP_011534978.1:p.Leu637=
XM_011536677.1:c.1785G>T	XP_011534979.1:p.Leu595=
XM_011536679.1:c.1338G>T	XP_011534981.1:p.Leu446=
XR_943416.1:n.2308G>T
XM_011536675.2:c.2244G>T	XP_011534977.1:p.Leu748=
XM_011536676.2:c.1911G>T	XP_011534978.1:p.Leu637=
XM_011536677.3:c.1785G>T	XP_011534979.1:p.Leu595=
XR_001750279.1:n.2341G>T
XR_001750282.1:n.2994G>T
XR_943416.3:n.2306G>T
NM_013382.6:c.2055G>T	NP_037514.2:p.Leu685=
NM_013382.7:c.2055G>T MANE Select	NP_037514.2:p.Leu685=