Canonical Allele Identifier: CA390514121

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745171G>C (hg19) ; chr14:g.77278828G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278828G>C , CM000676.2:g.77278828G>C	GRCh38
NC_000014.8:g.77745171G>C , CM000676.1:g.77745171G>C	GRCh37
NC_000014.7:g.76814924G>C	NCBI36
NG_008897.1:g.47055C>G , LRG_844:g.47055C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.858C>G
ENST00000556394.2:c.1474C>G	ENSP00000451967.2:p.Leu492Val
ENST00000682128.1:c.234C>G	ENSP00000506976.1:n.234C>G
ENST00000682247.1:c.1922C>G	ENSP00000507213.1:p.Ala641Gly
ENST00000682395.1:n.2397C>G
ENST00000682459.1:n.1636C>G
ENST00000682467.1:c.1892-320C>G	ENSP00000508062.1:n.1892-320C>G
ENST00000682615.1:n.287C>G
ENST00000682795.1:c.2080C>G	ENSP00000507574.1:p.Leu694Val
ENST00000682895.1:n.1649C>G
ENST00000682955.1:n.1507C>G
ENST00000683095.1:c.339C>G	ENSP00000508040.1:n.339C>G
ENST00000683188.1:c.2194C>G
ENST00000683380.1:n.1597C>G
ENST00000683828.1:c.1642C>G
ENST00000683907.1:c.198C>G	ENSP00000507754.1:p.Cys66Trp
ENST00000684172.1:c.309C>G	ENSP00000508391.1:n.309C>G
ENST00000684259.1:n.3700C>G
ENST00000684538.1:n.1312C>G
ENST00000684549.1:n.1484C>G
ENST00000261534.9:c.1933C>G MANE Select	ENSP00000261534.4:p.Leu645Val
ENST00000261534.8:c.1933C>G	ENSP00000261534.4:p.Leu645Val
ENST00000452340.7:n.2909C>G
ENST00000554767.5:n.2719C>G
ENST00000555134.1:n.858C>G
ENST00000555710.1:c.294C>G	ENSP00000451730.1:n.294C>G
ENST00000556171.1:c.525C>G
ENST00000556394.1:c.88-320C>G
ENST00000556446.1:n.234C>G
ENST00000602717.5:c.148C>G	ENSP00000487704.1:p.Leu50Val
NM_013382.5:c.1933C>G , LRG_844t1:c.1933C>G	NP_037514.2:p.Leu645Val
XM_011536675.1:c.2122C>G	XP_011534977.1:p.Leu708Val
XM_011536676.1:c.1789C>G	XP_011534978.1:p.Leu597Val
XM_011536677.1:c.1663C>G	XP_011534979.1:p.Leu555Val
XM_011536679.1:c.1216C>G	XP_011534981.1:p.Leu406Val
XR_943416.1:n.2186C>G
XM_011536675.2:c.2122C>G	XP_011534977.1:p.Leu708Val
XM_011536676.2:c.1789C>G	XP_011534978.1:p.Leu597Val
XM_011536677.3:c.1663C>G	XP_011534979.1:p.Leu555Val
XR_001750279.1:n.2219C>G
XR_001750282.1:n.2872C>G
XR_943416.3:n.2184C>G
NM_013382.6:c.1933C>G	NP_037514.2:p.Leu645Val
NM_013382.7:c.1933C>G MANE Select	NP_037514.2:p.Leu645Val