Canonical Allele Identifier: CA487509355

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744805G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278462G>C , CM000676.2:g.77278462G>C	GRCh38
NC_000014.8:g.77744805G>C , CM000676.1:g.77744805G>C	GRCh37
NC_000014.7:g.76814558G>C	NCBI36
NG_008897.1:g.47421C>G , LRG_844:g.47421C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1004C>G
ENST00000556394.2:c.1620C>G	ENSP00000451967.2:p.Ala540=
ENST00000682247.1:c.2068C>G	ENSP00000507213.1:p.Leu690Val
ENST00000682395.1:n.2543C>G
ENST00000682459.1:n.1782C>G
ENST00000682467.1:c.1938C>G	ENSP00000508062.1:p.Ala646=
ENST00000682795.1:c.2226C>G	ENSP00000507574.1:p.Ala742=
ENST00000682895.1:n.1795C>G
ENST00000682955.1:n.1653C>G
ENST00000683188.1:c.2340C>G
ENST00000683380.1:n.1743C>G
ENST00000683907.1:c.344C>G	ENSP00000507754.1:n.344C>G
ENST00000684259.1:n.3846C>G
ENST00000684538.1:n.1458C>G
ENST00000684549.1:n.1630C>G
ENST00000261534.9:c.2079C>G MANE Select	ENSP00000261534.4:p.Ala693=
ENST00000261534.8:c.2079C>G	ENSP00000261534.4:p.Ala693=
ENST00000452340.7:n.3055C>G
ENST00000554767.5:n.2865C>G
ENST00000555710.1:c.440C>G	ENSP00000451730.1:n.440C>G
ENST00000556394.1:c.134C>G
ENST00000556446.1:n.380C>G
ENST00000602717.5:c.294C>G	ENSP00000487704.1:p.Ala98=
NM_013382.5:c.2079C>G , LRG_844t1:c.2079C>G	NP_037514.2:p.Ala693=
XM_011536675.1:c.2268C>G	XP_011534977.1:p.Ala756=
XM_011536676.1:c.1935C>G	XP_011534978.1:p.Ala645=
XM_011536677.1:c.1809C>G	XP_011534979.1:p.Ala603=
XM_011536679.1:c.1362C>G	XP_011534981.1:p.Ala454=
XR_943416.1:n.2332C>G
XM_011536675.2:c.2268C>G	XP_011534977.1:p.Ala756=
XM_011536676.2:c.1935C>G	XP_011534978.1:p.Ala645=
XM_011536677.3:c.1809C>G	XP_011534979.1:p.Ala603=
XR_001750279.1:n.2365C>G
XR_001750282.1:n.3018C>G
XR_943416.3:n.2330C>G
NM_013382.6:c.2079C>G	NP_037514.2:p.Ala693=
NM_013382.7:c.2079C>G MANE Select	NP_037514.2:p.Ala693=