Canonical Allele Identifier: CA390514074

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745162T>G (hg19) ; chr14:g.77278819T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278819T>G , CM000676.2:g.77278819T>G	GRCh38
NC_000014.8:g.77745162T>G , CM000676.1:g.77745162T>G	GRCh37
NC_000014.7:g.76814915T>G	NCBI36
NG_008897.1:g.47064A>C , LRG_844:g.47064A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.867A>C
ENST00000556394.2:c.1483A>C	ENSP00000451967.2:p.Thr495Pro
ENST00000682128.1:c.243A>C	ENSP00000506976.1:n.243A>C
ENST00000682247.1:c.1931A>C	ENSP00000507213.1:p.Asp644Ala
ENST00000682395.1:n.2406A>C
ENST00000682459.1:n.1645A>C
ENST00000682467.1:c.1892-311A>C	ENSP00000508062.1:n.1892-311A>C
ENST00000682615.1:n.296A>C
ENST00000682795.1:c.2089A>C	ENSP00000507574.1:p.Thr697Pro
ENST00000682895.1:n.1658A>C
ENST00000682955.1:n.1516A>C
ENST00000683095.1:c.348A>C	ENSP00000508040.1:n.348A>C
ENST00000683188.1:c.2203A>C
ENST00000683380.1:n.1606A>C
ENST00000683828.1:c.1651A>C
ENST00000683907.1:c.207A>C	ENSP00000507754.1:p.Gly69=
ENST00000684172.1:c.318A>C	ENSP00000508391.1:n.318A>C
ENST00000684259.1:n.3709A>C
ENST00000684538.1:n.1321A>C
ENST00000684549.1:n.1493A>C
ENST00000261534.9:c.1942A>C MANE Select	ENSP00000261534.4:p.Thr648Pro
ENST00000261534.8:c.1942A>C	ENSP00000261534.4:p.Thr648Pro
ENST00000452340.7:n.2918A>C
ENST00000554767.5:n.2728A>C
ENST00000555134.1:n.867A>C
ENST00000555710.1:c.303A>C	ENSP00000451730.1:n.303A>C
ENST00000556171.1:c.534A>C
ENST00000556394.1:c.88-311A>C
ENST00000556446.1:n.243A>C
ENST00000602717.5:c.157A>C	ENSP00000487704.1:p.Thr53Pro
NM_013382.5:c.1942A>C , LRG_844t1:c.1942A>C	NP_037514.2:p.Thr648Pro
XM_011536675.1:c.2131A>C	XP_011534977.1:p.Thr711Pro
XM_011536676.1:c.1798A>C	XP_011534978.1:p.Thr600Pro
XM_011536677.1:c.1672A>C	XP_011534979.1:p.Thr558Pro
XM_011536679.1:c.1225A>C	XP_011534981.1:p.Thr409Pro
XR_943416.1:n.2195A>C
XM_011536675.2:c.2131A>C	XP_011534977.1:p.Thr711Pro
XM_011536676.2:c.1798A>C	XP_011534978.1:p.Thr600Pro
XM_011536677.3:c.1672A>C	XP_011534979.1:p.Thr558Pro
XR_001750279.1:n.2228A>C
XR_001750282.1:n.2881A>C
XR_943416.3:n.2193A>C
NM_013382.6:c.1942A>C	NP_037514.2:p.Thr648Pro
NM_013382.7:c.1942A>C MANE Select	NP_037514.2:p.Thr648Pro