Canonical Allele Identifier: CA238887

Gene: POMT2

Linked Data

• ClinVar Variation Id: 193367
• ClinVar RCV Id: RCV000173433 ; RCV001484220
• dbSNP Id: rs794726937
• MyVariant Identifiers: chr14:g.77786938T>A (hg19) ; chr14:g.77320595T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77320595T>A , CM000676.2:g.77320595T>A	GRCh38
NC_000014.8:g.77786938T>A , CM000676.1:g.77786938T>A	GRCh37
NC_000014.7:g.76856691T>A	NCBI36
NG_008897.1:g.5288A>T , LRG_844:g.5288A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.87A>T	ENSP00000451967.2:p.Ala29=
ENST00000682247.1:c.87A>T	ENSP00000507213.1:p.Ala29=
ENST00000682382.1:c.35A>T
ENST00000682467.1:c.87A>T	ENSP00000508062.1:p.Ala29=
ENST00000682795.1:c.87A>T	ENSP00000507574.1:p.Ala29=
ENST00000684344.1:c.87A>T	ENSP00000507432.1:p.Ala29=
ENST00000684534.1:n.110A>T
ENST00000261534.9:c.87A>T MANE Select	ENSP00000261534.4:p.Ala29=
ENST00000261534.8:c.87A>T	ENSP00000261534.4:p.Ala29=
ENST00000452340.7:n.110A>T
ENST00000556326.5:c.87A>T	ENSP00000450630.1:p.Ala29=
NM_013382.5:c.87A>T , LRG_844t1:c.87A>T	NP_037514.2:p.Ala29=
XM_011536675.1:c.87A>T	XP_011534977.1:p.Ala29=
XM_011536676.1:c.-162A>T	XP_011534978.1:n.-162A>T
XM_011536677.1:c.87A>T	XP_011534979.1:p.Ala29=
XM_011536678.1:c.87A>T	XP_011534980.1:p.Ala29=
XM_011536680.1:c.87A>T	XP_011534982.1:p.Ala29=
XR_943416.1:n.290A>T
XM_011536675.2:c.87A>T	XP_011534977.1:p.Ala29=
XM_011536676.2:c.-162A>T	XP_011534978.1:n.-162A>T
XM_011536677.3:c.87A>T	XP_011534979.1:p.Ala29=
XR_001750279.1:n.287A>T
XR_001750282.1:n.291A>T
XR_943416.3:n.288A>T
NM_013382.6:c.87A>T	NP_037514.2:p.Ala29=
NM_013382.7:c.87A>T MANE Select	NP_037514.2:p.Ala29=