Canonical Allele Identifier: CA390517765

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753148T>A (hg19) ; chr14:g.77286805T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286805T>A , CM000676.2:g.77286805T>A	GRCh38
NC_000014.8:g.77753148T>A , CM000676.1:g.77753148T>A	GRCh37
NC_000014.7:g.76822901T>A	NCBI36
NG_008897.1:g.39078A>T , LRG_844:g.39078A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.812A>T	ENSP00000451967.2:p.His271Leu
ENST00000682247.1:c.1271A>T	ENSP00000507213.1:p.His424Leu
ENST00000682382.1:c.843A>T
ENST00000682395.1:n.1449A>T
ENST00000682459.1:n.974A>T
ENST00000682467.1:c.1271A>T	ENSP00000508062.1:p.His424Leu
ENST00000682706.1:n.48A>T
ENST00000682795.1:c.1271A>T	ENSP00000507574.1:p.His424Leu
ENST00000682895.1:n.987A>T
ENST00000682955.1:n.559A>T
ENST00000683188.1:c.1246A>T
ENST00000683328.1:c.264A>T	ENSP00000508096.1:n.264A>T
ENST00000683380.1:n.935A>T
ENST00000683828.1:c.980A>T
ENST00000684259.1:n.1122A>T
ENST00000684444.1:c.18A>T
ENST00000684549.1:n.822A>T
ENST00000261534.9:c.1271A>T MANE Select	ENSP00000261534.4:p.His424Leu
ENST00000261534.8:c.1271A>T	ENSP00000261534.4:p.His424Leu
ENST00000452340.7:n.1294A>T
ENST00000553880.5:n.142A>T
ENST00000554767.5:n.2057A>T
ENST00000554884.5:n.263A>T
ENST00000556404.1:n.405A>T
ENST00000556851.1:n.307A>T
ENST00000557675.5:n.361A>T
NM_013382.5:c.1271A>T , LRG_844t1:c.1271A>T	NP_037514.2:p.His424Leu
XM_011536675.1:c.1271A>T	XP_011534977.1:p.His424Leu
XM_011536676.1:c.938A>T	XP_011534978.1:p.His313Leu
XM_011536677.1:c.812A>T	XP_011534979.1:p.His271Leu
XM_011536678.1:c.1271A>T	XP_011534980.1:p.His424Leu
XM_011536679.1:c.365A>T	XP_011534981.1:p.His122Leu
XR_943416.1:n.1474A>T
XM_011536675.2:c.1271A>T	XP_011534977.1:p.His424Leu
XM_011536676.2:c.938A>T	XP_011534978.1:p.His313Leu
XM_011536677.3:c.812A>T	XP_011534979.1:p.His271Leu
XR_001750279.1:n.1471A>T
XR_001750282.1:n.1924A>T
XR_943416.3:n.1472A>T
NM_013382.6:c.1271A>T	NP_037514.2:p.His424Leu
NM_013382.7:c.1271A>T MANE Select	NP_037514.2:p.His424Leu