Canonical Allele Identifier: CA487509204

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278730-T-G
• MyVariant Identifiers: chr14:g.77745073T>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278730T>G , CM000676.2:g.77278730T>G	GRCh38
NC_000014.8:g.77745073T>G , CM000676.1:g.77745073T>G	GRCh37
NC_000014.7:g.76814826T>G	NCBI36
NG_008897.1:g.47153A>C , LRG_844:g.47153A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.956A>C
ENST00000556394.2:c.1572A>C	ENSP00000451967.2:p.Thr524=
ENST00000682128.1:c.332A>C	ENSP00000506976.1:n.332A>C
ENST00000682247.1:c.2020A>C	ENSP00000507213.1:p.Arg674=
ENST00000682395.1:n.2495A>C
ENST00000682459.1:n.1734A>C
ENST00000682467.1:c.1892-222A>C	ENSP00000508062.1:n.1892-222A>C
ENST00000682615.1:n.385A>C
ENST00000682795.1:c.2178A>C	ENSP00000507574.1:p.Thr726=
ENST00000682895.1:n.1747A>C
ENST00000682955.1:n.1605A>C
ENST00000683095.1:c.437A>C	ENSP00000508040.1:n.437A>C
ENST00000683188.1:c.2292A>C
ENST00000683380.1:n.1695A>C
ENST00000683907.1:c.296A>C	ENSP00000507754.1:n.296A>C
ENST00000684172.1:c.407A>C	ENSP00000508391.1:n.407A>C
ENST00000684259.1:n.3798A>C
ENST00000684538.1:n.1410A>C
ENST00000684549.1:n.1582A>C
ENST00000261534.9:c.2031A>C MANE Select	ENSP00000261534.4:p.Thr677=
ENST00000261534.8:c.2031A>C	ENSP00000261534.4:p.Thr677=
ENST00000452340.7:n.3007A>C
ENST00000554767.5:n.2817A>C
ENST00000555710.1:c.392A>C	ENSP00000451730.1:n.392A>C
ENST00000556394.1:c.88-222A>C
ENST00000556446.1:n.332A>C
ENST00000602717.5:c.246A>C	ENSP00000487704.1:p.Thr82=
NM_013382.5:c.2031A>C , LRG_844t1:c.2031A>C	NP_037514.2:p.Thr677=
XM_011536675.1:c.2220A>C	XP_011534977.1:p.Thr740=
XM_011536676.1:c.1887A>C	XP_011534978.1:p.Thr629=
XM_011536677.1:c.1761A>C	XP_011534979.1:p.Thr587=
XM_011536679.1:c.1314A>C	XP_011534981.1:p.Thr438=
XR_943416.1:n.2284A>C
XM_011536675.2:c.2220A>C	XP_011534977.1:p.Thr740=
XM_011536676.2:c.1887A>C	XP_011534978.1:p.Thr629=
XM_011536677.3:c.1761A>C	XP_011534979.1:p.Thr587=
XR_001750279.1:n.2317A>C
XR_001750282.1:n.2970A>C
XR_943416.3:n.2282A>C
NM_013382.6:c.2031A>C	NP_037514.2:p.Thr677=
NM_013382.7:c.2031A>C MANE Select	NP_037514.2:p.Thr677=