Canonical Allele Identifier: CA487509426

Gene: POMT2

Linked Data

• ClinVar Variation Id: 2930727
• ClinVar RCV Id: RCV003790037
• dbSNP Id: rs1466364673
• gnomAD v2: 14-77744835-G-A
• gnomAD v3: 14-77278492-G-A
• gnomAD v4: 14-77278492-G-A
• MyVariant Identifiers: chr14:g.77744835G>A (hg19) ; chr14:g.77278492G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278492G>A , CM000676.2:g.77278492G>A	GRCh38
NC_000014.8:g.77744835G>A , CM000676.1:g.77744835G>A	GRCh37
NC_000014.7:g.76814588G>A	NCBI36
NG_008897.1:g.47391C>T , LRG_844:g.47391C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.974C>T
ENST00000556394.2:c.1590C>T	ENSP00000451967.2:p.Thr530=
ENST00000682247.1:c.2038C>T	ENSP00000507213.1:p.Pro680Ser
ENST00000682395.1:n.2513C>T
ENST00000682459.1:n.1752C>T
ENST00000682467.1:c.1908C>T	ENSP00000508062.1:p.Thr636=
ENST00000682795.1:c.2196C>T	ENSP00000507574.1:p.Thr732=
ENST00000682895.1:n.1765C>T
ENST00000682955.1:n.1623C>T
ENST00000683188.1:c.2310C>T
ENST00000683380.1:n.1713C>T
ENST00000683907.1:c.314C>T	ENSP00000507754.1:n.314C>T
ENST00000684259.1:n.3816C>T
ENST00000684538.1:n.1428C>T
ENST00000684549.1:n.1600C>T
ENST00000261534.9:c.2049C>T MANE Select	ENSP00000261534.4:p.Thr683=
ENST00000261534.8:c.2049C>T	ENSP00000261534.4:p.Thr683=
ENST00000452340.7:n.3025C>T
ENST00000554767.5:n.2835C>T
ENST00000555710.1:c.410C>T	ENSP00000451730.1:n.410C>T
ENST00000556394.1:c.104C>T
ENST00000556446.1:n.350C>T
ENST00000602717.5:c.264C>T	ENSP00000487704.1:p.Thr88=
NM_013382.5:c.2049C>T , LRG_844t1:c.2049C>T	NP_037514.2:p.Thr683=
XM_011536675.1:c.2238C>T	XP_011534977.1:p.Thr746=
XM_011536676.1:c.1905C>T	XP_011534978.1:p.Thr635=
XM_011536677.1:c.1779C>T	XP_011534979.1:p.Thr593=
XM_011536679.1:c.1332C>T	XP_011534981.1:p.Thr444=
XR_943416.1:n.2302C>T
XM_011536675.2:c.2238C>T	XP_011534977.1:p.Thr746=
XM_011536676.2:c.1905C>T	XP_011534978.1:p.Thr635=
XM_011536677.3:c.1779C>T	XP_011534979.1:p.Thr593=
XR_001750279.1:n.2335C>T
XR_001750282.1:n.2988C>T
XR_943416.3:n.2300C>T
NM_013382.6:c.2049C>T	NP_037514.2:p.Thr683=
NM_013382.7:c.2049C>T MANE Select	NP_037514.2:p.Thr683=