Canonical Allele Identifier: CA390513661

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744839T>G (hg19) ; chr14:g.77278496T>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.970A>C
ENST00000556394.2:c.1586A>C	ENSP00000451967.2:p.Asp529Ala
ENST00000682247.1:c.2034A>C	ENSP00000507213.1:p.Gly678=
ENST00000682395.1:n.2509A>C
ENST00000682459.1:n.1748A>C
ENST00000682467.1:c.1904A>C	ENSP00000508062.1:p.Asp635Ala
ENST00000682795.1:c.2192A>C	ENSP00000507574.1:p.Asp731Ala
ENST00000682895.1:n.1761A>C
ENST00000682955.1:n.1619A>C
ENST00000683188.1:c.2306A>C
ENST00000683380.1:n.1709A>C
ENST00000683907.1:c.310A>C	ENSP00000507754.1:n.310A>C
ENST00000684259.1:n.3812A>C
ENST00000684538.1:n.1424A>C
ENST00000684549.1:n.1596A>C
ENST00000261534.9:c.2045A>C MANE Select	ENSP00000261534.4:p.Asp682Ala
ENST00000261534.8:c.2045A>C	ENSP00000261534.4:p.Asp682Ala
ENST00000452340.7:n.3021A>C
ENST00000554767.5:n.2831A>C
ENST00000555710.1:c.406A>C	ENSP00000451730.1:n.406A>C
ENST00000556394.1:c.100A>C
ENST00000556446.1:n.346A>C
ENST00000602717.5:c.260A>C	ENSP00000487704.1:p.Asp87Ala
NM_013382.5:c.2045A>C , LRG_844t1:c.2045A>C	NP_037514.2:p.Asp682Ala
XM_011536675.1:c.2234A>C	XP_011534977.1:p.Asp745Ala
XM_011536676.1:c.1901A>C	XP_011534978.1:p.Asp634Ala
XM_011536677.1:c.1775A>C	XP_011534979.1:p.Asp592Ala
XM_011536679.1:c.1328A>C	XP_011534981.1:p.Asp443Ala
XR_943416.1:n.2298A>C
XM_011536675.2:c.2234A>C	XP_011534977.1:p.Asp745Ala
XM_011536676.2:c.1901A>C	XP_011534978.1:p.Asp634Ala
XM_011536677.3:c.1775A>C	XP_011534979.1:p.Asp592Ala
XR_001750279.1:n.2331A>C
XR_001750282.1:n.2984A>C
XR_943416.3:n.2296A>C
NM_013382.6:c.2045A>C	NP_037514.2:p.Asp682Ala
NM_013382.7:c.2045A>C MANE Select	NP_037514.2:p.Asp682Ala