Canonical Allele Identifier: CA7285551

Gene: POMT2

Linked Data

• ClinVar Variation Id: 1703704
• ClinVar RCV Id: RCV002280793
• dbSNP Id: rs765061014
• ExAC: 14:77744803 G / A
• gnomAD v2: 14-77744803-G-A
• gnomAD v3: 14-77278460-G-A
• gnomAD v4: 14-77278460-G-A
• MyVariant Identifiers: chr14:g.77744803G>A (hg19) ; chr14:g.77278460G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278460G>A , CM000676.2:g.77278460G>A	GRCh38
NC_000014.8:g.77744803G>A , CM000676.1:g.77744803G>A	GRCh37
NC_000014.7:g.76814556G>A	NCBI36
NG_008897.1:g.47423C>T , LRG_844:g.47423C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1006C>T
ENST00000556394.2:c.1622C>T	ENSP00000451967.2:p.Ser541Leu
ENST00000682247.1:c.2070C>T	ENSP00000507213.1:p.Leu690=
ENST00000682395.1:n.2545C>T
ENST00000682459.1:n.1784C>T
ENST00000682467.1:c.1940C>T	ENSP00000508062.1:p.Ser647Leu
ENST00000682795.1:c.2228C>T	ENSP00000507574.1:p.Ser743Leu
ENST00000682895.1:n.1797C>T
ENST00000682955.1:n.1655C>T
ENST00000683188.1:c.2342C>T
ENST00000683380.1:n.1745C>T
ENST00000683907.1:c.346C>T	ENSP00000507754.1:n.346C>T
ENST00000684259.1:n.3848C>T
ENST00000684538.1:n.1460C>T
ENST00000684549.1:n.1632C>T
ENST00000261534.9:c.2081C>T MANE Select	ENSP00000261534.4:p.Ser694Leu
ENST00000261534.8:c.2081C>T	ENSP00000261534.4:p.Ser694Leu
ENST00000452340.7:n.3057C>T
ENST00000554767.5:n.2867C>T
ENST00000555710.1:c.442C>T	ENSP00000451730.1:n.442C>T
ENST00000556394.1:c.136C>T
ENST00000556446.1:n.382C>T
ENST00000602717.5:c.296C>T	ENSP00000487704.1:p.Ser99Leu
NM_013382.5:c.2081C>T , LRG_844t1:c.2081C>T	NP_037514.2:p.Ser694Leu
XM_011536675.1:c.2270C>T	XP_011534977.1:p.Ser757Leu
XM_011536676.1:c.1937C>T	XP_011534978.1:p.Ser646Leu
XM_011536677.1:c.1811C>T	XP_011534979.1:p.Ser604Leu
XM_011536679.1:c.1364C>T	XP_011534981.1:p.Ser455Leu
XR_943416.1:n.2334C>T
XM_011536675.2:c.2270C>T	XP_011534977.1:p.Ser757Leu
XM_011536676.2:c.1937C>T	XP_011534978.1:p.Ser646Leu
XM_011536677.3:c.1811C>T	XP_011534979.1:p.Ser604Leu
XR_001750279.1:n.2367C>T
XR_001750282.1:n.3020C>T
XR_943416.3:n.2332C>T
NM_013382.6:c.2081C>T	NP_037514.2:p.Ser694Leu
NM_013382.7:c.2081C>T MANE Select	NP_037514.2:p.Ser694Leu