Canonical Allele Identifier: CA390520216

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77767501T>G (hg19) ; chr14:g.77301158T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301158T>G , CM000676.2:g.77301158T>G	GRCh38
NC_000014.8:g.77767501T>G , CM000676.1:g.77767501T>G	GRCh37
NC_000014.7:g.76837254T>G	NCBI36
NG_008897.1:g.24725A>C , LRG_844:g.24725A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.201A>C	ENSP00000508202.1:n.201A>C
ENST00000556394.2:c.358-1597A>C	ENSP00000451967.2:n.358-1597A>C
ENST00000556880.6:n.772A>C
ENST00000557289.2:c.92A>C
ENST00000682247.1:c.748A>C	ENSP00000507213.1:p.Ile250Leu
ENST00000682382.1:c.496-2387A>C
ENST00000682395.1:n.477A>C
ENST00000682459.1:n.412A>C
ENST00000682467.1:c.748A>C	ENSP00000508062.1:p.Ile250Leu
ENST00000682795.1:c.748A>C	ENSP00000507574.1:p.Ile250Leu
ENST00000682895.1:n.464A>C
ENST00000682955.1:n.212-2387A>C
ENST00000683167.1:c.92A>C
ENST00000683188.1:c.343-1597A>C
ENST00000683300.1:c.109+3534A>C	ENSP00000507630.1:n.109+3534A>C
ENST00000683328.1:c.109+3534A>C	ENSP00000508096.1:n.109+3534A>C
ENST00000683380.1:n.412A>C
ENST00000683398.1:c.92A>C
ENST00000683551.1:c.109+1677A>C
ENST00000683828.1:c.526-1597A>C
ENST00000684259.1:n.599A>C
ENST00000684549.1:n.368-1597A>C
ENST00000684554.1:c.92A>C
ENST00000261534.9:c.748A>C MANE Select	ENSP00000261534.4:p.Ile250Leu
ENST00000261534.8:c.748A>C	ENSP00000261534.4:p.Ile250Leu
ENST00000452340.7:n.771A>C
ENST00000553863.5:n.412A>C
ENST00000554767.5:n.6A>C
ENST00000555675.5:n.464A>C
ENST00000556326.5:c.*414A>C	ENSP00000450630.1:n.*414A>C
ENST00000557289.1:c.56-1597A>C	ENSP00000451115.1:n.56-1597A>C
NM_013382.5:c.748A>C , LRG_844t1:c.748A>C	NP_037514.2:p.Ile250Leu
XM_011536675.1:c.748A>C	XP_011534977.1:p.Ile250Leu
XM_011536676.1:c.415A>C	XP_011534978.1:p.Ile139Leu
XM_011536677.1:c.547+3534A>C	XP_011534979.1:n.547+3534A>C
XM_011536678.1:c.748A>C	XP_011534980.1:p.Ile250Leu
XM_011536679.1:c.-90-1597A>C	XP_011534981.1:n.-90-1597A>C
XM_011536680.1:c.748A>C	XP_011534982.1:p.Ile250Leu
XR_943416.1:n.951A>C
XM_011536675.2:c.748A>C	XP_011534977.1:p.Ile250Leu
XM_011536676.2:c.415A>C	XP_011534978.1:p.Ile139Leu
XM_011536677.3:c.547+3534A>C	XP_011534979.1:n.547+3534A>C
XR_001750279.1:n.948A>C
XR_001750282.1:n.952A>C
XR_943416.3:n.949A>C
NM_013382.6:c.748A>C	NP_037514.2:p.Ile250Leu
NM_013382.7:c.748A>C MANE Select	NP_037514.2:p.Ile250Leu