Canonical Allele Identifier: CA390517730

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753134C>A (hg19) ; chr14:g.77286791C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286791C>A , CM000676.2:g.77286791C>A	GRCh38
NC_000014.8:g.77753134C>A , CM000676.1:g.77753134C>A	GRCh37
NC_000014.7:g.76822887C>A	NCBI36
NG_008897.1:g.39092G>T , LRG_844:g.39092G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.826G>T	ENSP00000451967.2:p.Glu276Ter
ENST00000682247.1:c.1285G>T	ENSP00000507213.1:p.Glu429Ter
ENST00000682382.1:c.857G>T
ENST00000682395.1:n.1463G>T
ENST00000682459.1:n.988G>T
ENST00000682467.1:c.1285G>T	ENSP00000508062.1:p.Glu429Ter
ENST00000682706.1:n.62G>T
ENST00000682795.1:c.1285G>T	ENSP00000507574.1:p.Glu429Ter
ENST00000682895.1:n.1001G>T
ENST00000682955.1:n.573G>T
ENST00000683188.1:c.1260G>T
ENST00000683328.1:c.278G>T	ENSP00000508096.1:n.278G>T
ENST00000683380.1:n.949G>T
ENST00000683828.1:c.994G>T
ENST00000684259.1:n.1136G>T
ENST00000684444.1:c.32G>T
ENST00000684549.1:n.836G>T
ENST00000261534.9:c.1285G>T MANE Select	ENSP00000261534.4:p.Glu429Ter
ENST00000261534.8:c.1285G>T	ENSP00000261534.4:p.Glu429Ter
ENST00000452340.7:n.1308G>T
ENST00000553880.5:n.156G>T
ENST00000554767.5:n.2071G>T
ENST00000554884.5:n.277G>T
ENST00000556404.1:n.419G>T
ENST00000556851.1:n.321G>T
ENST00000557675.5:n.375G>T
NM_013382.5:c.1285G>T , LRG_844t1:c.1285G>T	NP_037514.2:p.Glu429Ter
XM_011536675.1:c.1285G>T	XP_011534977.1:p.Glu429Ter
XM_011536676.1:c.952G>T	XP_011534978.1:p.Glu318Ter
XM_011536677.1:c.826G>T	XP_011534979.1:p.Glu276Ter
XM_011536678.1:c.1285G>T	XP_011534980.1:p.Glu429Ter
XM_011536679.1:c.379G>T	XP_011534981.1:p.Glu127Ter
XR_943416.1:n.1488G>T
XM_011536675.2:c.1285G>T	XP_011534977.1:p.Glu429Ter
XM_011536676.2:c.952G>T	XP_011534978.1:p.Glu318Ter
XM_011536677.3:c.826G>T	XP_011534979.1:p.Glu276Ter
XR_001750279.1:n.1485G>T
XR_001750282.1:n.1938G>T
XR_943416.3:n.1486G>T
NM_013382.6:c.1285G>T	NP_037514.2:p.Glu429Ter
NM_013382.7:c.1285G>T MANE Select	NP_037514.2:p.Glu429Ter