Canonical Allele Identifier: CA390513610

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.984C>T
ENST00000556394.2:c.1600C>T	ENSP00000451967.2:p.Leu534Phe
ENST00000682247.1:c.2048C>T	ENSP00000507213.1:p.Ala683Val
ENST00000682395.1:n.2523C>T
ENST00000682459.1:n.1762C>T
ENST00000682467.1:c.1918C>T	ENSP00000508062.1:p.Leu640Phe
ENST00000682795.1:c.2206C>T	ENSP00000507574.1:p.Leu736Phe
ENST00000682895.1:n.1775C>T
ENST00000682955.1:n.1633C>T
ENST00000683188.1:c.2320C>T
ENST00000683380.1:n.1723C>T
ENST00000683907.1:c.324C>T	ENSP00000507754.1:n.324C>T
ENST00000684259.1:n.3826C>T
ENST00000684538.1:n.1438C>T
ENST00000684549.1:n.1610C>T
ENST00000261534.9:c.2059C>T MANE Select	ENSP00000261534.4:p.Leu687Phe
ENST00000261534.8:c.2059C>T	ENSP00000261534.4:p.Leu687Phe
ENST00000452340.7:n.3035C>T
ENST00000554767.5:n.2845C>T
ENST00000555710.1:c.420C>T	ENSP00000451730.1:n.420C>T
ENST00000556394.1:c.114C>T
ENST00000556446.1:n.360C>T
ENST00000602717.5:c.274C>T	ENSP00000487704.1:p.Leu92Phe
NM_013382.5:c.2059C>T , LRG_844t1:c.2059C>T	NP_037514.2:p.Leu687Phe
XM_011536675.1:c.2248C>T	XP_011534977.1:p.Leu750Phe
XM_011536676.1:c.1915C>T	XP_011534978.1:p.Leu639Phe
XM_011536677.1:c.1789C>T	XP_011534979.1:p.Leu597Phe
XM_011536679.1:c.1342C>T	XP_011534981.1:p.Leu448Phe
XR_943416.1:n.2312C>T
XM_011536675.2:c.2248C>T	XP_011534977.1:p.Leu750Phe
XM_011536676.2:c.1915C>T	XP_011534978.1:p.Leu639Phe
XM_011536677.3:c.1789C>T	XP_011534979.1:p.Leu597Phe
XR_001750279.1:n.2345C>T
XR_001750282.1:n.2998C>T
XR_943416.3:n.2310C>T
NM_013382.6:c.2059C>T	NP_037514.2:p.Leu687Phe
NM_013382.7:c.2059C>T MANE Select	NP_037514.2:p.Leu687Phe