Canonical Allele Identifier: CA390513884

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745115G>C (hg19) ; chr14:g.77278772G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278772G>C , CM000676.2:g.77278772G>C	GRCh38
NC_000014.8:g.77745115G>C , CM000676.1:g.77745115G>C	GRCh37
NC_000014.7:g.76814868G>C	NCBI36
NG_008897.1:g.47111C>G , LRG_844:g.47111C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.914C>G
ENST00000556394.2:c.1530C>G	ENSP00000451967.2:p.Phe510Leu
ENST00000682128.1:c.290C>G	ENSP00000506976.1:n.290C>G
ENST00000682247.1:c.1978C>G	ENSP00000507213.1:p.Pro660Ala
ENST00000682395.1:n.2453C>G
ENST00000682459.1:n.1692C>G
ENST00000682467.1:c.1892-264C>G	ENSP00000508062.1:n.1892-264C>G
ENST00000682615.1:n.343C>G
ENST00000682795.1:c.2136C>G	ENSP00000507574.1:p.Phe712Leu
ENST00000682895.1:n.1705C>G
ENST00000682955.1:n.1563C>G
ENST00000683095.1:c.395C>G	ENSP00000508040.1:n.395C>G
ENST00000683188.1:c.2250C>G
ENST00000683380.1:n.1653C>G
ENST00000683907.1:c.254C>G	ENSP00000507754.1:n.254C>G
ENST00000684172.1:c.365C>G	ENSP00000508391.1:n.365C>G
ENST00000684259.1:n.3756C>G
ENST00000684538.1:n.1368C>G
ENST00000684549.1:n.1540C>G
ENST00000261534.9:c.1989C>G MANE Select	ENSP00000261534.4:p.Phe663Leu
ENST00000261534.8:c.1989C>G	ENSP00000261534.4:p.Phe663Leu
ENST00000452340.7:n.2965C>G
ENST00000554767.5:n.2775C>G
ENST00000555710.1:c.350C>G	ENSP00000451730.1:n.350C>G
ENST00000556394.1:c.88-264C>G
ENST00000556446.1:n.290C>G
ENST00000602717.5:c.204C>G	ENSP00000487704.1:p.Phe68Leu
NM_013382.5:c.1989C>G , LRG_844t1:c.1989C>G	NP_037514.2:p.Phe663Leu
XM_011536675.1:c.2178C>G	XP_011534977.1:p.Phe726Leu
XM_011536676.1:c.1845C>G	XP_011534978.1:p.Phe615Leu
XM_011536677.1:c.1719C>G	XP_011534979.1:p.Phe573Leu
XM_011536679.1:c.1272C>G	XP_011534981.1:p.Phe424Leu
XR_943416.1:n.2242C>G
XM_011536675.2:c.2178C>G	XP_011534977.1:p.Phe726Leu
XM_011536676.2:c.1845C>G	XP_011534978.1:p.Phe615Leu
XM_011536677.3:c.1719C>G	XP_011534979.1:p.Phe573Leu
XR_001750279.1:n.2275C>G
XR_001750282.1:n.2928C>G
XR_943416.3:n.2240C>G
NM_013382.6:c.1989C>G	NP_037514.2:p.Phe663Leu
NM_013382.7:c.1989C>G MANE Select	NP_037514.2:p.Phe663Leu