Canonical Allele Identifier: CA7285555

Gene: POMT2

Linked Data

• ClinVar Variation Id: 1571047
• ClinVar RCV Id: RCV002217409
• dbSNP Id: rs751651828
• ExAC: 14:77744826 C / A
• gnomAD v2: 14-77744826-C-A
• gnomAD v4: 14-77278483-C-A
• MyVariant Identifiers: chr14:g.77744826C>A (hg19) ; chr14:g.77278483C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.983G>T
ENST00000556394.2:c.1599G>T	ENSP00000451967.2:p.Arg533=
ENST00000682247.1:c.2047G>T	ENSP00000507213.1:p.Ala683Ser
ENST00000682395.1:n.2522G>T
ENST00000682459.1:n.1761G>T
ENST00000682467.1:c.1917G>T	ENSP00000508062.1:p.Arg639=
ENST00000682795.1:c.2205G>T	ENSP00000507574.1:p.Arg735=
ENST00000682895.1:n.1774G>T
ENST00000682955.1:n.1632G>T
ENST00000683188.1:c.2319G>T
ENST00000683380.1:n.1722G>T
ENST00000683907.1:c.323G>T	ENSP00000507754.1:n.323G>T
ENST00000684259.1:n.3825G>T
ENST00000684538.1:n.1437G>T
ENST00000684549.1:n.1609G>T
ENST00000261534.9:c.2058G>T MANE Select	ENSP00000261534.4:p.Arg686=
ENST00000261534.8:c.2058G>T	ENSP00000261534.4:p.Arg686=
ENST00000452340.7:n.3034G>T
ENST00000554767.5:n.2844G>T
ENST00000555710.1:c.419G>T	ENSP00000451730.1:n.419G>T
ENST00000556394.1:c.113G>T
ENST00000556446.1:n.359G>T
ENST00000602717.5:c.273G>T	ENSP00000487704.1:p.Arg91=
NM_013382.5:c.2058G>T , LRG_844t1:c.2058G>T	NP_037514.2:p.Arg686=
XM_011536675.1:c.2247G>T	XP_011534977.1:p.Arg749=
XM_011536676.1:c.1914G>T	XP_011534978.1:p.Arg638=
XM_011536677.1:c.1788G>T	XP_011534979.1:p.Arg596=
XM_011536679.1:c.1341G>T	XP_011534981.1:p.Arg447=
XR_943416.1:n.2311G>T
XM_011536675.2:c.2247G>T	XP_011534977.1:p.Arg749=
XM_011536676.2:c.1914G>T	XP_011534978.1:p.Arg638=
XM_011536677.3:c.1788G>T	XP_011534979.1:p.Arg596=
XR_001750279.1:n.2344G>T
XR_001750282.1:n.2997G>T
XR_943416.3:n.2309G>T
NM_013382.6:c.2058G>T	NP_037514.2:p.Arg686=
NM_013382.7:c.2058G>T MANE Select	NP_037514.2:p.Arg686=