Canonical Allele Identifier: CA390517644

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753093A>C (hg19) ; chr14:g.77286750A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286750A>C , CM000676.2:g.77286750A>C	GRCh38
NC_000014.8:g.77753093A>C , CM000676.1:g.77753093A>C	GRCh37
NC_000014.7:g.76822846A>C	NCBI36
NG_008897.1:g.39133T>G , LRG_844:g.39133T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.867T>G	ENSP00000451967.2:p.Tyr289Ter
ENST00000682247.1:c.1326T>G	ENSP00000507213.1:p.Tyr442Ter
ENST00000682382.1:c.898T>G
ENST00000682395.1:n.1504T>G
ENST00000682459.1:n.1029T>G
ENST00000682467.1:c.1326T>G	ENSP00000508062.1:p.Tyr442Ter
ENST00000682706.1:n.103T>G
ENST00000682795.1:c.1326T>G	ENSP00000507574.1:p.Tyr442Ter
ENST00000682895.1:n.1042T>G
ENST00000682955.1:n.614T>G
ENST00000683188.1:c.1301T>G
ENST00000683328.1:c.319T>G	ENSP00000508096.1:n.319T>G
ENST00000683380.1:n.990T>G
ENST00000683828.1:c.1035T>G
ENST00000684259.1:n.1177T>G
ENST00000684444.1:c.73T>G
ENST00000684549.1:n.877T>G
ENST00000261534.9:c.1326T>G MANE Select	ENSP00000261534.4:p.Tyr442Ter
ENST00000261534.8:c.1326T>G	ENSP00000261534.4:p.Tyr442Ter
ENST00000452340.7:n.1349T>G
ENST00000553880.5:n.197T>G
ENST00000554767.5:n.2112T>G
ENST00000554884.5:n.318T>G
ENST00000556404.1:n.460T>G
ENST00000556851.1:n.362T>G
ENST00000557675.5:n.416T>G
NM_013382.5:c.1326T>G , LRG_844t1:c.1326T>G	NP_037514.2:p.Tyr442Ter
XM_011536675.1:c.1326T>G	XP_011534977.1:p.Tyr442Ter
XM_011536676.1:c.993T>G	XP_011534978.1:p.Tyr331Ter
XM_011536677.1:c.867T>G	XP_011534979.1:p.Tyr289Ter
XM_011536678.1:c.1326T>G	XP_011534980.1:p.Tyr442Ter
XM_011536679.1:c.420T>G	XP_011534981.1:p.Tyr140Ter
XR_943416.1:n.1529T>G
XM_011536675.2:c.1326T>G	XP_011534977.1:p.Tyr442Ter
XM_011536676.2:c.993T>G	XP_011534978.1:p.Tyr331Ter
XM_011536677.3:c.867T>G	XP_011534979.1:p.Tyr289Ter
XR_001750279.1:n.1526T>G
XR_001750282.1:n.1979T>G
XR_943416.3:n.1527T>G
NM_013382.6:c.1326T>G	NP_037514.2:p.Tyr442Ter
NM_013382.7:c.1326T>G MANE Select	NP_037514.2:p.Tyr442Ter