Canonical Allele Identifier: CA487509376

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278468-G-A
• MyVariant Identifiers: chr14:g.77744811G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278468G>A , CM000676.2:g.77278468G>A	GRCh38
NC_000014.8:g.77744811G>A , CM000676.1:g.77744811G>A	GRCh37
NC_000014.7:g.76814564G>A	NCBI36
NG_008897.1:g.47415C>T , LRG_844:g.47415C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.998C>T
ENST00000556394.2:c.1614C>T	ENSP00000451967.2:p.Gly538=
ENST00000682247.1:c.2062C>T	ENSP00000507213.1:p.Leu688Phe
ENST00000682395.1:n.2537C>T
ENST00000682459.1:n.1776C>T
ENST00000682467.1:c.1932C>T	ENSP00000508062.1:p.Gly644=
ENST00000682795.1:c.2220C>T	ENSP00000507574.1:p.Gly740=
ENST00000682895.1:n.1789C>T
ENST00000682955.1:n.1647C>T
ENST00000683188.1:c.2334C>T
ENST00000683380.1:n.1737C>T
ENST00000683907.1:c.338C>T	ENSP00000507754.1:n.338C>T
ENST00000684259.1:n.3840C>T
ENST00000684538.1:n.1452C>T
ENST00000684549.1:n.1624C>T
ENST00000261534.9:c.2073C>T MANE Select	ENSP00000261534.4:p.Gly691=
ENST00000261534.8:c.2073C>T	ENSP00000261534.4:p.Gly691=
ENST00000452340.7:n.3049C>T
ENST00000554767.5:n.2859C>T
ENST00000555710.1:c.434C>T	ENSP00000451730.1:n.434C>T
ENST00000556394.1:c.128C>T
ENST00000556446.1:n.374C>T
ENST00000602717.5:c.288C>T	ENSP00000487704.1:p.Gly96=
NM_013382.5:c.2073C>T , LRG_844t1:c.2073C>T	NP_037514.2:p.Gly691=
XM_011536675.1:c.2262C>T	XP_011534977.1:p.Gly754=
XM_011536676.1:c.1929C>T	XP_011534978.1:p.Gly643=
XM_011536677.1:c.1803C>T	XP_011534979.1:p.Gly601=
XM_011536679.1:c.1356C>T	XP_011534981.1:p.Gly452=
XR_943416.1:n.2326C>T
XM_011536675.2:c.2262C>T	XP_011534977.1:p.Gly754=
XM_011536676.2:c.1929C>T	XP_011534978.1:p.Gly643=
XM_011536677.3:c.1803C>T	XP_011534979.1:p.Gly601=
XR_001750279.1:n.2359C>T
XR_001750282.1:n.3012C>T
XR_943416.3:n.2324C>T
NM_013382.6:c.2073C>T	NP_037514.2:p.Gly691=
NM_013382.7:c.2073C>T MANE Select	NP_037514.2:p.Gly691=