Canonical Allele Identifier: CA223077

Gene: POMT2

Linked Data

• ClinVar Variation Id: 95540
• ClinVar RCV Id: RCV000081571
• dbSNP Id: rs76700503
• ExAC: 14:77744798 G / A
• gnomAD v2: 14-77744798-G-A
• gnomAD v3: 14-77278455-G-A
• gnomAD v4: 14-77278455-G-A
• MyVariant Identifiers: chr14:g.77744798G>A (hg19) ; chr14:g.77278455G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278455G>A , CM000676.2:g.77278455G>A	GRCh38
NC_000014.8:g.77744798G>A , CM000676.1:g.77744798G>A	GRCh37
NC_000014.7:g.76814551G>A	NCBI36
NG_008897.1:g.47428C>T , LRG_844:g.47428C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1011C>T
ENST00000556394.2:c.1627C>T	ENSP00000451967.2:p.Pro543Ser
ENST00000682247.1:c.2075C>T	ENSP00000507213.1:p.Ala692Val
ENST00000682395.1:n.2550C>T
ENST00000682459.1:n.1789C>T
ENST00000682467.1:c.1945C>T	ENSP00000508062.1:p.Pro649Ser
ENST00000682795.1:c.2233C>T	ENSP00000507574.1:p.Pro745Ser
ENST00000682895.1:n.1802C>T
ENST00000682955.1:n.1660C>T
ENST00000683188.1:c.2347C>T
ENST00000683380.1:n.1750C>T
ENST00000683907.1:c.351C>T	ENSP00000507754.1:n.351C>T
ENST00000684259.1:n.3853C>T
ENST00000684538.1:n.1465C>T
ENST00000684549.1:n.1637C>T
ENST00000261534.9:c.2086C>T MANE Select	ENSP00000261534.4:p.Pro696Ser
ENST00000261534.8:c.2086C>T	ENSP00000261534.4:p.Pro696Ser
ENST00000452340.7:n.3062C>T
ENST00000554767.5:n.2872C>T
ENST00000555710.1:c.447C>T	ENSP00000451730.1:n.447C>T
ENST00000556394.1:c.141C>T
ENST00000556446.1:n.387C>T
ENST00000602717.5:c.301C>T	ENSP00000487704.1:p.Pro101Ser
NM_013382.5:c.2086C>T , LRG_844t1:c.2086C>T	NP_037514.2:p.Pro696Ser
XM_011536675.1:c.2275C>T	XP_011534977.1:p.Pro759Ser
XM_011536676.1:c.1942C>T	XP_011534978.1:p.Pro648Ser
XM_011536677.1:c.1816C>T	XP_011534979.1:p.Pro606Ser
XM_011536679.1:c.1369C>T	XP_011534981.1:p.Pro457Ser
XR_943416.1:n.2339C>T
XM_011536675.2:c.2275C>T	XP_011534977.1:p.Pro759Ser
XM_011536676.2:c.1942C>T	XP_011534978.1:p.Pro648Ser
XM_011536677.3:c.1816C>T	XP_011534979.1:p.Pro606Ser
XR_001750279.1:n.2372C>T
XR_001750282.1:n.3025C>T
XR_943416.3:n.2337C>T
NM_013382.6:c.2086C>T	NP_037514.2:p.Pro696Ser
NM_013382.7:c.2086C>T MANE Select	NP_037514.2:p.Pro696Ser