Canonical Allele Identifier: CA487509324

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2930830
• ClinVar RCV Id: RCV003790140
• dbSNP Id: rs1389415600
• gnomAD v2: 14-77744796-G-A
• gnomAD v4: 14-77278453-G-A
• MyVariant Identifiers: chr14:g.77744796G>A (hg19) ; chr14:g.77278453G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278453G>A , CM000676.2:g.77278453G>A	GRCh38
NC_000014.8:g.77744796G>A , CM000676.1:g.77744796G>A	GRCh37
NC_000014.7:g.76814549G>A	NCBI36
NG_008897.1:g.47430C>T , LRG_844:g.47430C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1013C>T
ENST00000556394.2:c.1629C>T	ENSP00000451967.2:p.Pro543=
ENST00000682247.1:c.2077C>T	ENSP00000507213.1:p.Pro693Ser
ENST00000682395.1:n.2552C>T
ENST00000682459.1:n.1791C>T
ENST00000682467.1:c.1947C>T	ENSP00000508062.1:p.Pro649=
ENST00000682795.1:c.2235C>T	ENSP00000507574.1:p.Pro745=
ENST00000682895.1:n.1804C>T
ENST00000682955.1:n.1662C>T
ENST00000683188.1:c.2349C>T
ENST00000683380.1:n.1752C>T
ENST00000683907.1:c.353C>T	ENSP00000507754.1:n.353C>T
ENST00000684259.1:n.3855C>T
ENST00000684538.1:n.1467C>T
ENST00000684549.1:n.1639C>T
ENST00000261534.9:c.2088C>T MANE Select	ENSP00000261534.4:p.Pro696=
ENST00000261534.8:c.2088C>T	ENSP00000261534.4:p.Pro696=
ENST00000452340.7:n.3064C>T
ENST00000554767.5:n.2874C>T
ENST00000555710.1:c.449C>T	ENSP00000451730.1:n.449C>T
ENST00000556394.1:c.143C>T
ENST00000556446.1:n.389C>T
ENST00000602717.5:c.303C>T	ENSP00000487704.1:p.Pro101=
NM_013382.5:c.2088C>T , LRG_844t1:c.2088C>T	NP_037514.2:p.Pro696=
XM_011536675.1:c.2277C>T	XP_011534977.1:p.Pro759=
XM_011536676.1:c.1944C>T	XP_011534978.1:p.Pro648=
XM_011536677.1:c.1818C>T	XP_011534979.1:p.Pro606=
XM_011536679.1:c.1371C>T	XP_011534981.1:p.Pro457=
XR_943416.1:n.2341C>T
XM_011536675.2:c.2277C>T	XP_011534977.1:p.Pro759=
XM_011536676.2:c.1944C>T	XP_011534978.1:p.Pro648=
XM_011536677.3:c.1818C>T	XP_011534979.1:p.Pro606=
XR_001750279.1:n.2374C>T
XR_001750282.1:n.3027C>T
XR_943416.3:n.2339C>T
NM_013382.6:c.2088C>T	NP_037514.2:p.Pro696=
NM_013382.7:c.2088C>T MANE Select	NP_037514.2:p.Pro696=