Canonical Allele Identifier: CA7285553

Gene: POMT2

Linked Data

• ClinVar Variation Id: 282171
• ClinVar RCV Id: RCV000283624 ; RCV001859556 ; RCV004021100
• dbSNP Id: rs758678348
• ExAC: 14:77744812 C / A
• gnomAD v2: 14-77744812-C-A
• gnomAD v3: 14-77278469-C-A
• gnomAD v4: 14-77278469-C-A
• MyVariant Identifiers: chr14:g.77744812C>A (hg19) ; chr14:g.77278469C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278469C>A , CM000676.2:g.77278469C>A	GRCh38
NC_000014.8:g.77744812C>A , CM000676.1:g.77744812C>A	GRCh37
NC_000014.7:g.76814565C>A	NCBI36
NG_008897.1:g.47414G>T , LRG_844:g.47414G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.997G>T
ENST00000556394.2:c.1613G>T	ENSP00000451967.2:p.Gly538Val
ENST00000682247.1:c.2061G>T	ENSP00000507213.1:p.Gly687=
ENST00000682395.1:n.2536G>T
ENST00000682459.1:n.1775G>T
ENST00000682467.1:c.1931G>T	ENSP00000508062.1:p.Gly644Val
ENST00000682795.1:c.2219G>T	ENSP00000507574.1:p.Gly740Val
ENST00000682895.1:n.1788G>T
ENST00000682955.1:n.1646G>T
ENST00000683188.1:c.2333G>T
ENST00000683380.1:n.1736G>T
ENST00000683907.1:c.337G>T	ENSP00000507754.1:n.337G>T
ENST00000684259.1:n.3839G>T
ENST00000684538.1:n.1451G>T
ENST00000684549.1:n.1623G>T
ENST00000261534.9:c.2072G>T MANE Select	ENSP00000261534.4:p.Gly691Val
ENST00000261534.8:c.2072G>T	ENSP00000261534.4:p.Gly691Val
ENST00000452340.7:n.3048G>T
ENST00000554767.5:n.2858G>T
ENST00000555710.1:c.433G>T	ENSP00000451730.1:n.433G>T
ENST00000556394.1:c.127G>T
ENST00000556446.1:n.373G>T
ENST00000602717.5:c.287G>T	ENSP00000487704.1:p.Gly96Val
NM_013382.5:c.2072G>T , LRG_844t1:c.2072G>T	NP_037514.2:p.Gly691Val
XM_011536675.1:c.2261G>T	XP_011534977.1:p.Gly754Val
XM_011536676.1:c.1928G>T	XP_011534978.1:p.Gly643Val
XM_011536677.1:c.1802G>T	XP_011534979.1:p.Gly601Val
XM_011536679.1:c.1355G>T	XP_011534981.1:p.Gly452Val
XR_943416.1:n.2325G>T
XM_011536675.2:c.2261G>T	XP_011534977.1:p.Gly754Val
XM_011536676.2:c.1928G>T	XP_011534978.1:p.Gly643Val
XM_011536677.3:c.1802G>T	XP_011534979.1:p.Gly601Val
XR_001750279.1:n.2358G>T
XR_001750282.1:n.3011G>T
XR_943416.3:n.2323G>T
NM_013382.6:c.2072G>T	NP_037514.2:p.Gly691Val
NM_013382.7:c.2072G>T MANE Select	NP_037514.2:p.Gly691Val