Canonical Allele Identifier: CA390513833

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745105A>C (hg19) ; chr14:g.77278762A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278762A>C , CM000676.2:g.77278762A>C	GRCh38
NC_000014.8:g.77745105A>C , CM000676.1:g.77745105A>C	GRCh37
NC_000014.7:g.76814858A>C	NCBI36
NG_008897.1:g.47121T>G , LRG_844:g.47121T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.924T>G
ENST00000556394.2:c.1540T>G	ENSP00000451967.2:p.Phe514Val
ENST00000682128.1:c.300T>G	ENSP00000506976.1:n.300T>G
ENST00000682247.1:c.1988T>G	ENSP00000507213.1:p.Leu663Arg
ENST00000682395.1:n.2463T>G
ENST00000682459.1:n.1702T>G
ENST00000682467.1:c.1892-254T>G	ENSP00000508062.1:n.1892-254T>G
ENST00000682615.1:n.353T>G
ENST00000682795.1:c.2146T>G	ENSP00000507574.1:p.Phe716Val
ENST00000682895.1:n.1715T>G
ENST00000682955.1:n.1573T>G
ENST00000683095.1:c.405T>G	ENSP00000508040.1:n.405T>G
ENST00000683188.1:c.2260T>G
ENST00000683380.1:n.1663T>G
ENST00000683907.1:c.264T>G	ENSP00000507754.1:n.264T>G
ENST00000684172.1:c.375T>G	ENSP00000508391.1:n.375T>G
ENST00000684259.1:n.3766T>G
ENST00000684538.1:n.1378T>G
ENST00000684549.1:n.1550T>G
ENST00000261534.9:c.1999T>G MANE Select	ENSP00000261534.4:p.Phe667Val
ENST00000261534.8:c.1999T>G	ENSP00000261534.4:p.Phe667Val
ENST00000452340.7:n.2975T>G
ENST00000554767.5:n.2785T>G
ENST00000555710.1:c.360T>G	ENSP00000451730.1:n.360T>G
ENST00000556394.1:c.88-254T>G
ENST00000556446.1:n.300T>G
ENST00000602717.5:c.214T>G	ENSP00000487704.1:p.Phe72Val
NM_013382.5:c.1999T>G , LRG_844t1:c.1999T>G	NP_037514.2:p.Phe667Val
XM_011536675.1:c.2188T>G	XP_011534977.1:p.Phe730Val
XM_011536676.1:c.1855T>G	XP_011534978.1:p.Phe619Val
XM_011536677.1:c.1729T>G	XP_011534979.1:p.Phe577Val
XM_011536679.1:c.1282T>G	XP_011534981.1:p.Phe428Val
XR_943416.1:n.2252T>G
XM_011536675.2:c.2188T>G	XP_011534977.1:p.Phe730Val
XM_011536676.2:c.1855T>G	XP_011534978.1:p.Phe619Val
XM_011536677.3:c.1729T>G	XP_011534979.1:p.Phe577Val
XR_001750279.1:n.2285T>G
XR_001750282.1:n.2938T>G
XR_943416.3:n.2250T>G
NM_013382.6:c.1999T>G	NP_037514.2:p.Phe667Val
NM_013382.7:c.1999T>G MANE Select	NP_037514.2:p.Phe667Val