Canonical Allele Identifier: CA390514099

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745167C>G (hg19) ; chr14:g.77278824C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278824C>G , CM000676.2:g.77278824C>G	GRCh38
NC_000014.8:g.77745167C>G , CM000676.1:g.77745167C>G	GRCh37
NC_000014.7:g.76814920C>G	NCBI36
NG_008897.1:g.47059G>C , LRG_844:g.47059G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.862G>C
ENST00000556394.2:c.1478G>C	ENSP00000451967.2:p.Gly493Ala
ENST00000682128.1:c.238G>C	ENSP00000506976.1:n.238G>C
ENST00000682247.1:c.1926G>C	ENSP00000507213.1:p.Arg642=
ENST00000682395.1:n.2401G>C
ENST00000682459.1:n.1640G>C
ENST00000682467.1:c.1892-316G>C	ENSP00000508062.1:n.1892-316G>C
ENST00000682615.1:n.291G>C
ENST00000682795.1:c.2084G>C	ENSP00000507574.1:p.Gly695Ala
ENST00000682895.1:n.1653G>C
ENST00000682955.1:n.1511G>C
ENST00000683095.1:c.343G>C	ENSP00000508040.1:n.343G>C
ENST00000683188.1:c.2198G>C
ENST00000683380.1:n.1601G>C
ENST00000683828.1:c.1646G>C
ENST00000683907.1:c.202G>C	ENSP00000507754.1:p.Ala68Pro
ENST00000684172.1:c.313G>C	ENSP00000508391.1:n.313G>C
ENST00000684259.1:n.3704G>C
ENST00000684538.1:n.1316G>C
ENST00000684549.1:n.1488G>C
ENST00000261534.9:c.1937G>C MANE Select	ENSP00000261534.4:p.Gly646Ala
ENST00000261534.8:c.1937G>C	ENSP00000261534.4:p.Gly646Ala
ENST00000452340.7:n.2913G>C
ENST00000554767.5:n.2723G>C
ENST00000555134.1:n.862G>C
ENST00000555710.1:c.298G>C	ENSP00000451730.1:n.298G>C
ENST00000556171.1:c.529G>C
ENST00000556394.1:c.88-316G>C
ENST00000556446.1:n.238G>C
ENST00000602717.5:c.152G>C	ENSP00000487704.1:p.Gly51Ala
NM_013382.5:c.1937G>C , LRG_844t1:c.1937G>C	NP_037514.2:p.Gly646Ala
XM_011536675.1:c.2126G>C	XP_011534977.1:p.Gly709Ala
XM_011536676.1:c.1793G>C	XP_011534978.1:p.Gly598Ala
XM_011536677.1:c.1667G>C	XP_011534979.1:p.Gly556Ala
XM_011536679.1:c.1220G>C	XP_011534981.1:p.Gly407Ala
XR_943416.1:n.2190G>C
XM_011536675.2:c.2126G>C	XP_011534977.1:p.Gly709Ala
XM_011536676.2:c.1793G>C	XP_011534978.1:p.Gly598Ala
XM_011536677.3:c.1667G>C	XP_011534979.1:p.Gly556Ala
XR_001750279.1:n.2223G>C
XR_001750282.1:n.2876G>C
XR_943416.3:n.2188G>C
NM_013382.6:c.1937G>C	NP_037514.2:p.Gly646Ala
NM_013382.7:c.1937G>C MANE Select	NP_037514.2:p.Gly646Ala