Canonical Allele Identifier: CA390513607

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278482-G-T
• MyVariant Identifiers: chr14:g.77744825G>T (hg19) ; chr14:g.77278482G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278482G>T , CM000676.2:g.77278482G>T	GRCh38
NC_000014.8:g.77744825G>T , CM000676.1:g.77744825G>T	GRCh37
NC_000014.7:g.76814578G>T	NCBI36
NG_008897.1:g.47401C>A , LRG_844:g.47401C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.984C>A
ENST00000556394.2:c.1600C>A	ENSP00000451967.2:p.Leu534Ile
ENST00000682247.1:c.2048C>A	ENSP00000507213.1:p.Ala683Asp
ENST00000682395.1:n.2523C>A
ENST00000682459.1:n.1762C>A
ENST00000682467.1:c.1918C>A	ENSP00000508062.1:p.Leu640Ile
ENST00000682795.1:c.2206C>A	ENSP00000507574.1:p.Leu736Ile
ENST00000682895.1:n.1775C>A
ENST00000682955.1:n.1633C>A
ENST00000683188.1:c.2320C>A
ENST00000683380.1:n.1723C>A
ENST00000683907.1:c.324C>A	ENSP00000507754.1:n.324C>A
ENST00000684259.1:n.3826C>A
ENST00000684538.1:n.1438C>A
ENST00000684549.1:n.1610C>A
ENST00000261534.9:c.2059C>A MANE Select	ENSP00000261534.4:p.Leu687Ile
ENST00000261534.8:c.2059C>A	ENSP00000261534.4:p.Leu687Ile
ENST00000452340.7:n.3035C>A
ENST00000554767.5:n.2845C>A
ENST00000555710.1:c.420C>A	ENSP00000451730.1:n.420C>A
ENST00000556394.1:c.114C>A
ENST00000556446.1:n.360C>A
ENST00000602717.5:c.274C>A	ENSP00000487704.1:p.Leu92Ile
NM_013382.5:c.2059C>A , LRG_844t1:c.2059C>A	NP_037514.2:p.Leu687Ile
XM_011536675.1:c.2248C>A	XP_011534977.1:p.Leu750Ile
XM_011536676.1:c.1915C>A	XP_011534978.1:p.Leu639Ile
XM_011536677.1:c.1789C>A	XP_011534979.1:p.Leu597Ile
XM_011536679.1:c.1342C>A	XP_011534981.1:p.Leu448Ile
XR_943416.1:n.2312C>A
XM_011536675.2:c.2248C>A	XP_011534977.1:p.Leu750Ile
XM_011536676.2:c.1915C>A	XP_011534978.1:p.Leu639Ile
XM_011536677.3:c.1789C>A	XP_011534979.1:p.Leu597Ile
XR_001750279.1:n.2345C>A
XR_001750282.1:n.2998C>A
XR_943416.3:n.2310C>A
NM_013382.6:c.2059C>A	NP_037514.2:p.Leu687Ile
NM_013382.7:c.2059C>A MANE Select	NP_037514.2:p.Leu687Ile