Canonical Allele Identifier: CA390520249

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77767517A>C (hg19) ; chr14:g.77301174A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301174A>C , CM000676.2:g.77301174A>C	GRCh38
NC_000014.8:g.77767517A>C , CM000676.1:g.77767517A>C	GRCh37
NC_000014.7:g.76837270A>C	NCBI36
NG_008897.1:g.24709T>G , LRG_844:g.24709T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.185T>G	ENSP00000508202.1:n.185T>G
ENST00000556394.2:c.358-1613T>G	ENSP00000451967.2:n.358-1613T>G
ENST00000556880.6:n.756T>G
ENST00000557289.2:c.76T>G
ENST00000682247.1:c.732T>G	ENSP00000507213.1:p.Phe244Leu
ENST00000682382.1:c.496-2403T>G
ENST00000682395.1:n.461T>G
ENST00000682459.1:n.396T>G
ENST00000682467.1:c.732T>G	ENSP00000508062.1:p.Phe244Leu
ENST00000682795.1:c.732T>G	ENSP00000507574.1:p.Phe244Leu
ENST00000682895.1:n.448T>G
ENST00000682955.1:n.212-2403T>G
ENST00000683167.1:c.76T>G
ENST00000683188.1:c.343-1613T>G
ENST00000683300.1:c.109+3518T>G	ENSP00000507630.1:n.109+3518T>G
ENST00000683328.1:c.109+3518T>G	ENSP00000508096.1:n.109+3518T>G
ENST00000683380.1:n.396T>G
ENST00000683398.1:c.76T>G
ENST00000683551.1:c.109+1661T>G
ENST00000683828.1:c.526-1613T>G
ENST00000684259.1:n.583T>G
ENST00000684549.1:n.368-1613T>G
ENST00000684554.1:c.76T>G
ENST00000261534.9:c.732T>G MANE Select	ENSP00000261534.4:p.Phe244Leu
ENST00000261534.8:c.732T>G	ENSP00000261534.4:p.Phe244Leu
ENST00000452340.7:n.755T>G
ENST00000553863.5:n.396T>G
ENST00000555675.5:n.448T>G
ENST00000556326.5:c.*398T>G	ENSP00000450630.1:n.*398T>G
ENST00000557289.1:c.56-1613T>G	ENSP00000451115.1:n.56-1613T>G
NM_013382.5:c.732T>G , LRG_844t1:c.732T>G	NP_037514.2:p.Phe244Leu
XM_011536675.1:c.732T>G	XP_011534977.1:p.Phe244Leu
XM_011536676.1:c.399T>G	XP_011534978.1:p.Phe133Leu
XM_011536677.1:c.547+3518T>G	XP_011534979.1:n.547+3518T>G
XM_011536678.1:c.732T>G	XP_011534980.1:p.Phe244Leu
XM_011536679.1:c.-90-1613T>G	XP_011534981.1:n.-90-1613T>G
XM_011536680.1:c.732T>G	XP_011534982.1:p.Phe244Leu
XR_943416.1:n.935T>G
XM_011536675.2:c.732T>G	XP_011534977.1:p.Phe244Leu
XM_011536676.2:c.399T>G	XP_011534978.1:p.Phe133Leu
XM_011536677.3:c.547+3518T>G	XP_011534979.1:n.547+3518T>G
XR_001750279.1:n.932T>G
XR_001750282.1:n.936T>G
XR_943416.3:n.933T>G
NM_013382.6:c.732T>G	NP_037514.2:p.Phe244Leu
NM_013382.7:c.732T>G MANE Select	NP_037514.2:p.Phe244Leu