Canonical Allele Identifier: CA390520393

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77767585A>G (hg19) ; chr14:g.77301242A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301242A>G , CM000676.2:g.77301242A>G	GRCh38
NC_000014.8:g.77767585A>G , CM000676.1:g.77767585A>G	GRCh37
NC_000014.7:g.76837338A>G	NCBI36
NG_008897.1:g.24641T>C , LRG_844:g.24641T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.117T>C	ENSP00000508202.1:p.Ser39=
ENST00000556394.2:c.358-1681T>C	ENSP00000451967.2:n.358-1681T>C
ENST00000556880.6:n.688T>C
ENST00000557289.2:c.8T>C
ENST00000682247.1:c.664T>C	ENSP00000507213.1:p.Ser222Pro
ENST00000682382.1:c.496-2471T>C
ENST00000682395.1:n.393T>C
ENST00000682459.1:n.328T>C
ENST00000682467.1:c.664T>C	ENSP00000508062.1:p.Ser222Pro
ENST00000682795.1:c.664T>C	ENSP00000507574.1:p.Ser222Pro
ENST00000682895.1:n.380T>C
ENST00000682955.1:n.212-2471T>C
ENST00000683167.1:c.8T>C
ENST00000683188.1:c.343-1681T>C
ENST00000683300.1:c.109+3450T>C	ENSP00000507630.1:n.109+3450T>C
ENST00000683328.1:c.109+3450T>C	ENSP00000508096.1:n.109+3450T>C
ENST00000683380.1:n.328T>C
ENST00000683398.1:c.8T>C
ENST00000683551.1:c.109+1593T>C
ENST00000683828.1:c.525+1593T>C
ENST00000684259.1:n.515T>C
ENST00000684549.1:n.368-1681T>C
ENST00000684554.1:c.8T>C
ENST00000261534.9:c.664T>C MANE Select	ENSP00000261534.4:p.Ser222Pro
ENST00000261534.8:c.664T>C	ENSP00000261534.4:p.Ser222Pro
ENST00000452340.7:n.687T>C
ENST00000553863.5:n.328T>C
ENST00000554948.1:c.391T>C	ENSP00000452060.1:p.Ser131Pro
ENST00000555675.5:n.380T>C
ENST00000556326.5:c.*330T>C	ENSP00000450630.1:n.*330T>C
ENST00000557289.1:c.56-1681T>C	ENSP00000451115.1:n.56-1681T>C
NM_013382.5:c.664T>C , LRG_844t1:c.664T>C	NP_037514.2:p.Ser222Pro
XM_011536675.1:c.664T>C	XP_011534977.1:p.Ser222Pro
XM_011536676.1:c.331T>C	XP_011534978.1:p.Ser111Pro
XM_011536677.1:c.547+3450T>C	XP_011534979.1:n.547+3450T>C
XM_011536678.1:c.664T>C	XP_011534980.1:p.Ser222Pro
XM_011536679.1:c.-90-1681T>C	XP_011534981.1:n.-90-1681T>C
XM_011536680.1:c.664T>C	XP_011534982.1:p.Ser222Pro
XR_943416.1:n.867T>C
XM_011536675.2:c.664T>C	XP_011534977.1:p.Ser222Pro
XM_011536676.2:c.331T>C	XP_011534978.1:p.Ser111Pro
XM_011536677.3:c.547+3450T>C	XP_011534979.1:n.547+3450T>C
XR_001750279.1:n.864T>C
XR_001750282.1:n.868T>C
XR_943416.3:n.865T>C
NM_013382.6:c.664T>C	NP_037514.2:p.Ser222Pro
NM_013382.7:c.664T>C MANE Select	NP_037514.2:p.Ser222Pro