Canonical Allele Identifier: CA390513660

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278496-T-C
• MyVariant Identifiers: chr14:g.77744839T>C (hg19) ; chr14:g.77278496T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278496T>C , CM000676.2:g.77278496T>C	GRCh38
NC_000014.8:g.77744839T>C , CM000676.1:g.77744839T>C	GRCh37
NC_000014.7:g.76814592T>C	NCBI36
NG_008897.1:g.47387A>G , LRG_844:g.47387A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.970A>G
ENST00000556394.2:c.1586A>G	ENSP00000451967.2:p.Asp529Gly
ENST00000682247.1:c.2034A>G	ENSP00000507213.1:p.Gly678=
ENST00000682395.1:n.2509A>G
ENST00000682459.1:n.1748A>G
ENST00000682467.1:c.1904A>G	ENSP00000508062.1:p.Asp635Gly
ENST00000682795.1:c.2192A>G	ENSP00000507574.1:p.Asp731Gly
ENST00000682895.1:n.1761A>G
ENST00000682955.1:n.1619A>G
ENST00000683188.1:c.2306A>G
ENST00000683380.1:n.1709A>G
ENST00000683907.1:c.310A>G	ENSP00000507754.1:n.310A>G
ENST00000684259.1:n.3812A>G
ENST00000684538.1:n.1424A>G
ENST00000684549.1:n.1596A>G
ENST00000261534.9:c.2045A>G MANE Select	ENSP00000261534.4:p.Asp682Gly
ENST00000261534.8:c.2045A>G	ENSP00000261534.4:p.Asp682Gly
ENST00000452340.7:n.3021A>G
ENST00000554767.5:n.2831A>G
ENST00000555710.1:c.406A>G	ENSP00000451730.1:n.406A>G
ENST00000556394.1:c.100A>G
ENST00000556446.1:n.346A>G
ENST00000602717.5:c.260A>G	ENSP00000487704.1:p.Asp87Gly
NM_013382.5:c.2045A>G , LRG_844t1:c.2045A>G	NP_037514.2:p.Asp682Gly
XM_011536675.1:c.2234A>G	XP_011534977.1:p.Asp745Gly
XM_011536676.1:c.1901A>G	XP_011534978.1:p.Asp634Gly
XM_011536677.1:c.1775A>G	XP_011534979.1:p.Asp592Gly
XM_011536679.1:c.1328A>G	XP_011534981.1:p.Asp443Gly
XR_943416.1:n.2298A>G
XM_011536675.2:c.2234A>G	XP_011534977.1:p.Asp745Gly
XM_011536676.2:c.1901A>G	XP_011534978.1:p.Asp634Gly
XM_011536677.3:c.1775A>G	XP_011534979.1:p.Asp592Gly
XR_001750279.1:n.2331A>G
XR_001750282.1:n.2984A>G
XR_943416.3:n.2296A>G
NM_013382.6:c.2045A>G	NP_037514.2:p.Asp682Gly
NM_013382.7:c.2045A>G MANE Select	NP_037514.2:p.Asp682Gly