Canonical Allele Identifier: CA390520231

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77767507A>G (hg19) ; chr14:g.77301164A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301164A>G , CM000676.2:g.77301164A>G	GRCh38
NC_000014.8:g.77767507A>G , CM000676.1:g.77767507A>G	GRCh37
NC_000014.7:g.76837260A>G	NCBI36
NG_008897.1:g.24719T>C , LRG_844:g.24719T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.195T>C	ENSP00000508202.1:n.195T>C
ENST00000556394.2:c.358-1603T>C	ENSP00000451967.2:n.358-1603T>C
ENST00000556880.6:n.766T>C
ENST00000557289.2:c.86T>C
ENST00000682247.1:c.742T>C	ENSP00000507213.1:p.Phe248Leu
ENST00000682382.1:c.496-2393T>C
ENST00000682395.1:n.471T>C
ENST00000682459.1:n.406T>C
ENST00000682467.1:c.742T>C	ENSP00000508062.1:p.Phe248Leu
ENST00000682795.1:c.742T>C	ENSP00000507574.1:p.Phe248Leu
ENST00000682895.1:n.458T>C
ENST00000682955.1:n.212-2393T>C
ENST00000683167.1:c.86T>C
ENST00000683188.1:c.343-1603T>C
ENST00000683300.1:c.109+3528T>C	ENSP00000507630.1:n.109+3528T>C
ENST00000683328.1:c.109+3528T>C	ENSP00000508096.1:n.109+3528T>C
ENST00000683380.1:n.406T>C
ENST00000683398.1:c.86T>C
ENST00000683551.1:c.109+1671T>C
ENST00000683828.1:c.526-1603T>C
ENST00000684259.1:n.593T>C
ENST00000684549.1:n.368-1603T>C
ENST00000684554.1:c.86T>C
ENST00000261534.9:c.742T>C MANE Select	ENSP00000261534.4:p.Phe248Leu
ENST00000261534.8:c.742T>C	ENSP00000261534.4:p.Phe248Leu
ENST00000452340.7:n.765T>C
ENST00000553863.5:n.406T>C
ENST00000555675.5:n.458T>C
ENST00000556326.5:c.*408T>C	ENSP00000450630.1:n.*408T>C
ENST00000557289.1:c.56-1603T>C	ENSP00000451115.1:n.56-1603T>C
NM_013382.5:c.742T>C , LRG_844t1:c.742T>C	NP_037514.2:p.Phe248Leu
XM_011536675.1:c.742T>C	XP_011534977.1:p.Phe248Leu
XM_011536676.1:c.409T>C	XP_011534978.1:p.Phe137Leu
XM_011536677.1:c.547+3528T>C	XP_011534979.1:n.547+3528T>C
XM_011536678.1:c.742T>C	XP_011534980.1:p.Phe248Leu
XM_011536679.1:c.-90-1603T>C	XP_011534981.1:n.-90-1603T>C
XM_011536680.1:c.742T>C	XP_011534982.1:p.Phe248Leu
XR_943416.1:n.945T>C
XM_011536675.2:c.742T>C	XP_011534977.1:p.Phe248Leu
XM_011536676.2:c.409T>C	XP_011534978.1:p.Phe137Leu
XM_011536677.3:c.547+3528T>C	XP_011534979.1:n.547+3528T>C
XR_001750279.1:n.942T>C
XR_001750282.1:n.946T>C
XR_943416.3:n.943T>C
NM_013382.6:c.742T>C	NP_037514.2:p.Phe248Leu
NM_013382.7:c.742T>C MANE Select	NP_037514.2:p.Phe248Leu