Canonical Allele Identifier: CA390513988

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745142A>C (hg19) ; chr14:g.77278799A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278799A>C , CM000676.2:g.77278799A>C	GRCh38
NC_000014.8:g.77745142A>C , CM000676.1:g.77745142A>C	GRCh37
NC_000014.7:g.76814895A>C	NCBI36
NG_008897.1:g.47084T>G , LRG_844:g.47084T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.887T>G
ENST00000556394.2:c.1503T>G	ENSP00000451967.2:p.Phe501Leu
ENST00000682128.1:c.263T>G	ENSP00000506976.1:n.263T>G
ENST00000682247.1:c.1951T>G	ENSP00000507213.1:p.Phe651Val
ENST00000682395.1:n.2426T>G
ENST00000682459.1:n.1665T>G
ENST00000682467.1:c.1892-291T>G	ENSP00000508062.1:n.1892-291T>G
ENST00000682615.1:n.316T>G
ENST00000682795.1:c.2109T>G	ENSP00000507574.1:p.Phe703Leu
ENST00000682895.1:n.1678T>G
ENST00000682955.1:n.1536T>G
ENST00000683095.1:c.368T>G	ENSP00000508040.1:n.368T>G
ENST00000683188.1:c.2223T>G
ENST00000683380.1:n.1626T>G
ENST00000683828.1:c.1671T>G
ENST00000683907.1:c.227T>G	ENSP00000507754.1:p.Phe76Cys
ENST00000684172.1:c.338T>G	ENSP00000508391.1:n.338T>G
ENST00000684259.1:n.3729T>G
ENST00000684538.1:n.1341T>G
ENST00000684549.1:n.1513T>G
ENST00000261534.9:c.1962T>G MANE Select	ENSP00000261534.4:p.Phe654Leu
ENST00000261534.8:c.1962T>G	ENSP00000261534.4:p.Phe654Leu
ENST00000452340.7:n.2938T>G
ENST00000554767.5:n.2748T>G
ENST00000555710.1:c.323T>G	ENSP00000451730.1:n.323T>G
ENST00000556171.1:c.554T>G
ENST00000556394.1:c.88-291T>G
ENST00000556446.1:n.263T>G
ENST00000602717.5:c.177T>G	ENSP00000487704.1:p.Phe59Leu
NM_013382.5:c.1962T>G , LRG_844t1:c.1962T>G	NP_037514.2:p.Phe654Leu
XM_011536675.1:c.2151T>G	XP_011534977.1:p.Phe717Leu
XM_011536676.1:c.1818T>G	XP_011534978.1:p.Phe606Leu
XM_011536677.1:c.1692T>G	XP_011534979.1:p.Phe564Leu
XM_011536679.1:c.1245T>G	XP_011534981.1:p.Phe415Leu
XR_943416.1:n.2215T>G
XM_011536675.2:c.2151T>G	XP_011534977.1:p.Phe717Leu
XM_011536676.2:c.1818T>G	XP_011534978.1:p.Phe606Leu
XM_011536677.3:c.1692T>G	XP_011534979.1:p.Phe564Leu
XR_001750279.1:n.2248T>G
XR_001750282.1:n.2901T>G
XR_943416.3:n.2213T>G
NM_013382.6:c.1962T>G	NP_037514.2:p.Phe654Leu
NM_013382.7:c.1962T>G MANE Select	NP_037514.2:p.Phe654Leu