Canonical Allele Identifier: CA390514133

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745174G>C (hg19) ; chr14:g.77278831G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278831G>C , CM000676.2:g.77278831G>C	GRCh38
NC_000014.8:g.77745174G>C , CM000676.1:g.77745174G>C	GRCh37
NC_000014.7:g.76814927G>C	NCBI36
NG_008897.1:g.47052C>G , LRG_844:g.47052C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.855C>G
ENST00000556394.2:c.1471C>G	ENSP00000451967.2:p.Leu491Val
ENST00000682128.1:c.231C>G	ENSP00000506976.1:n.231C>G
ENST00000682247.1:c.1919C>G	ENSP00000507213.1:p.Pro640Arg
ENST00000682395.1:n.2394C>G
ENST00000682459.1:n.1633C>G
ENST00000682467.1:c.1892-323C>G	ENSP00000508062.1:n.1892-323C>G
ENST00000682615.1:n.284C>G
ENST00000682795.1:c.2077C>G	ENSP00000507574.1:p.Leu693Val
ENST00000682895.1:n.1646C>G
ENST00000682955.1:n.1504C>G
ENST00000683095.1:c.336C>G	ENSP00000508040.1:n.336C>G
ENST00000683188.1:c.2191C>G
ENST00000683380.1:n.1594C>G
ENST00000683828.1:c.1639C>G
ENST00000683907.1:c.195C>G	ENSP00000507754.1:p.Ser65=
ENST00000684172.1:c.306C>G	ENSP00000508391.1:n.306C>G
ENST00000684259.1:n.3697C>G
ENST00000684538.1:n.1309C>G
ENST00000684549.1:n.1481C>G
ENST00000261534.9:c.1930C>G MANE Select	ENSP00000261534.4:p.Leu644Val
ENST00000261534.8:c.1930C>G	ENSP00000261534.4:p.Leu644Val
ENST00000452340.7:n.2906C>G
ENST00000554767.5:n.2716C>G
ENST00000555134.1:n.855C>G
ENST00000555710.1:c.291C>G	ENSP00000451730.1:n.291C>G
ENST00000556171.1:c.522C>G
ENST00000556394.1:c.88-323C>G
ENST00000556446.1:n.231C>G
ENST00000602717.5:c.145C>G	ENSP00000487704.1:p.Leu49Val
NM_013382.5:c.1930C>G , LRG_844t1:c.1930C>G	NP_037514.2:p.Leu644Val
XM_011536675.1:c.2119C>G	XP_011534977.1:p.Leu707Val
XM_011536676.1:c.1786C>G	XP_011534978.1:p.Leu596Val
XM_011536677.1:c.1660C>G	XP_011534979.1:p.Leu554Val
XM_011536679.1:c.1213C>G	XP_011534981.1:p.Leu405Val
XR_943416.1:n.2183C>G
XM_011536675.2:c.2119C>G	XP_011534977.1:p.Leu707Val
XM_011536676.2:c.1786C>G	XP_011534978.1:p.Leu596Val
XM_011536677.3:c.1660C>G	XP_011534979.1:p.Leu554Val
XR_001750279.1:n.2216C>G
XR_001750282.1:n.2869C>G
XR_943416.3:n.2181C>G
NM_013382.6:c.1930C>G	NP_037514.2:p.Leu644Val
NM_013382.7:c.1930C>G MANE Select	NP_037514.2:p.Leu644Val