Canonical Allele Identifier: CA487509417

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278805-G-A
• MyVariant Identifiers: chr14:g.77745148G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278805G>A , CM000676.2:g.77278805G>A	GRCh38
NC_000014.8:g.77745148G>A , CM000676.1:g.77745148G>A	GRCh37
NC_000014.7:g.76814901G>A	NCBI36
NG_008897.1:g.47078C>T , LRG_844:g.47078C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.881C>T
ENST00000556394.2:c.1497C>T	ENSP00000451967.2:p.Phe499=
ENST00000682128.1:c.257C>T	ENSP00000506976.1:n.257C>T
ENST00000682247.1:c.1945C>T	ENSP00000507213.1:p.Pro649Ser
ENST00000682395.1:n.2420C>T
ENST00000682459.1:n.1659C>T
ENST00000682467.1:c.1892-297C>T	ENSP00000508062.1:n.1892-297C>T
ENST00000682615.1:n.310C>T
ENST00000682795.1:c.2103C>T	ENSP00000507574.1:p.Phe701=
ENST00000682895.1:n.1672C>T
ENST00000682955.1:n.1530C>T
ENST00000683095.1:c.362C>T	ENSP00000508040.1:n.362C>T
ENST00000683188.1:c.2217C>T
ENST00000683380.1:n.1620C>T
ENST00000683828.1:c.1665C>T
ENST00000683907.1:c.221C>T	ENSP00000507754.1:p.Ser74Phe
ENST00000684172.1:c.332C>T	ENSP00000508391.1:n.332C>T
ENST00000684259.1:n.3723C>T
ENST00000684538.1:n.1335C>T
ENST00000684549.1:n.1507C>T
ENST00000261534.9:c.1956C>T MANE Select	ENSP00000261534.4:p.Phe652=
ENST00000261534.8:c.1956C>T	ENSP00000261534.4:p.Phe652=
ENST00000452340.7:n.2932C>T
ENST00000554767.5:n.2742C>T
ENST00000555710.1:c.317C>T	ENSP00000451730.1:n.317C>T
ENST00000556171.1:c.548C>T
ENST00000556394.1:c.88-297C>T
ENST00000556446.1:n.257C>T
ENST00000602717.5:c.171C>T	ENSP00000487704.1:p.Phe57=
NM_013382.5:c.1956C>T , LRG_844t1:c.1956C>T	NP_037514.2:p.Phe652=
XM_011536675.1:c.2145C>T	XP_011534977.1:p.Phe715=
XM_011536676.1:c.1812C>T	XP_011534978.1:p.Phe604=
XM_011536677.1:c.1686C>T	XP_011534979.1:p.Phe562=
XM_011536679.1:c.1239C>T	XP_011534981.1:p.Phe413=
XR_943416.1:n.2209C>T
XM_011536675.2:c.2145C>T	XP_011534977.1:p.Phe715=
XM_011536676.2:c.1812C>T	XP_011534978.1:p.Phe604=
XM_011536677.3:c.1686C>T	XP_011534979.1:p.Phe562=
XR_001750279.1:n.2242C>T
XR_001750282.1:n.2895C>T
XR_943416.3:n.2207C>T
NM_013382.6:c.1956C>T	NP_037514.2:p.Phe652=
NM_013382.7:c.1956C>T MANE Select	NP_037514.2:p.Phe652=