Canonical Allele Identifier: CA390519666

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77765035C>A (hg19) ; chr14:g.77298692C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298692C>A , CM000676.2:g.77298692C>A	GRCh38
NC_000014.8:g.77765035C>A , CM000676.1:g.77765035C>A	GRCh37
NC_000014.7:g.76834788C>A	NCBI36
NG_008897.1:g.27191G>T , LRG_844:g.27191G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.544G>T	ENSP00000451967.2:p.Glu182Ter
ENST00000557289.2:c.301G>T
ENST00000682247.1:c.1003G>T	ENSP00000507213.1:p.Glu335Ter
ENST00000682382.1:c.575G>T
ENST00000682395.1:n.732G>T
ENST00000682459.1:n.667G>T
ENST00000682467.1:c.1003G>T	ENSP00000508062.1:p.Glu335Ter
ENST00000682795.1:c.1003G>T	ENSP00000507574.1:p.Glu335Ter
ENST00000682895.1:n.719G>T
ENST00000682955.1:n.291G>T
ENST00000683188.1:c.529G>T
ENST00000683300.1:c.110-2419G>T	ENSP00000507630.1:n.110-2419G>T
ENST00000683328.1:c.109+6000G>T	ENSP00000508096.1:n.109+6000G>T
ENST00000683380.1:n.667G>T
ENST00000683551.1:c.189G>T
ENST00000683828.1:c.712G>T
ENST00000684259.1:n.854G>T
ENST00000684549.1:n.554G>T
ENST00000684554.1:c.240G>T
ENST00000261534.9:c.1003G>T MANE Select	ENSP00000261534.4:p.Glu335Ter
ENST00000261534.8:c.1003G>T	ENSP00000261534.4:p.Glu335Ter
ENST00000452340.7:n.1026G>T
ENST00000554767.5:n.1789G>T
ENST00000557289.1:c.242G>T	ENSP00000451115.1:n.242G>T
NM_013382.5:c.1003G>T , LRG_844t1:c.1003G>T	NP_037514.2:p.Glu335Ter
XM_011536675.1:c.1003G>T	XP_011534977.1:p.Glu335Ter
XM_011536676.1:c.670G>T	XP_011534978.1:p.Glu224Ter
XM_011536677.1:c.548-2419G>T	XP_011534979.1:n.548-2419G>T
XM_011536678.1:c.1003G>T	XP_011534980.1:p.Glu335Ter
XM_011536679.1:c.97G>T	XP_011534981.1:p.Glu33Ter
XM_011536680.1:c.1003G>T	XP_011534982.1:p.Glu335Ter
XR_943416.1:n.1206G>T
XM_011536675.2:c.1003G>T	XP_011534977.1:p.Glu335Ter
XM_011536676.2:c.670G>T	XP_011534978.1:p.Glu224Ter
XM_011536677.3:c.548-2419G>T	XP_011534979.1:n.548-2419G>T
XR_001750279.1:n.1203G>T
XR_001750282.1:n.1207G>T
XR_943416.3:n.1204G>T
NM_013382.6:c.1003G>T	NP_037514.2:p.Glu335Ter
NM_013382.7:c.1003G>T MANE Select	NP_037514.2:p.Glu335Ter