Canonical Allele Identifier: CA390513724

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745080A>T (hg19) ; chr14:g.77278737A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278737A>T , CM000676.2:g.77278737A>T	GRCh38
NC_000014.8:g.77745080A>T , CM000676.1:g.77745080A>T	GRCh37
NC_000014.7:g.76814833A>T	NCBI36
NG_008897.1:g.47146T>A , LRG_844:g.47146T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.949T>A
ENST00000556394.2:c.1565T>A	ENSP00000451967.2:p.Met522Lys
ENST00000682128.1:c.325T>A	ENSP00000506976.1:n.325T>A
ENST00000682247.1:c.2013T>A	ENSP00000507213.1:p.His671Gln
ENST00000682395.1:n.2488T>A
ENST00000682459.1:n.1727T>A
ENST00000682467.1:c.1892-229T>A	ENSP00000508062.1:n.1892-229T>A
ENST00000682615.1:n.378T>A
ENST00000682795.1:c.2171T>A	ENSP00000507574.1:p.Met724Lys
ENST00000682895.1:n.1740T>A
ENST00000682955.1:n.1598T>A
ENST00000683095.1:c.430T>A	ENSP00000508040.1:n.430T>A
ENST00000683188.1:c.2285T>A
ENST00000683380.1:n.1688T>A
ENST00000683907.1:c.289T>A	ENSP00000507754.1:n.289T>A
ENST00000684172.1:c.400T>A	ENSP00000508391.1:n.400T>A
ENST00000684259.1:n.3791T>A
ENST00000684538.1:n.1403T>A
ENST00000684549.1:n.1575T>A
ENST00000261534.9:c.2024T>A MANE Select	ENSP00000261534.4:p.Met675Lys
ENST00000261534.8:c.2024T>A	ENSP00000261534.4:p.Met675Lys
ENST00000452340.7:n.3000T>A
ENST00000554767.5:n.2810T>A
ENST00000555710.1:c.385T>A	ENSP00000451730.1:n.385T>A
ENST00000556394.1:c.88-229T>A
ENST00000556446.1:n.325T>A
ENST00000602717.5:c.239T>A	ENSP00000487704.1:p.Met80Lys
NM_013382.5:c.2024T>A , LRG_844t1:c.2024T>A	NP_037514.2:p.Met675Lys
XM_011536675.1:c.2213T>A	XP_011534977.1:p.Met738Lys
XM_011536676.1:c.1880T>A	XP_011534978.1:p.Met627Lys
XM_011536677.1:c.1754T>A	XP_011534979.1:p.Met585Lys
XM_011536679.1:c.1307T>A	XP_011534981.1:p.Met436Lys
XR_943416.1:n.2277T>A
XM_011536675.2:c.2213T>A	XP_011534977.1:p.Met738Lys
XM_011536676.2:c.1880T>A	XP_011534978.1:p.Met627Lys
XM_011536677.3:c.1754T>A	XP_011534979.1:p.Met585Lys
XR_001750279.1:n.2310T>A
XR_001750282.1:n.2963T>A
XR_943416.3:n.2275T>A
NM_013382.6:c.2024T>A	NP_037514.2:p.Met675Lys
NM_013382.7:c.2024T>A MANE Select	NP_037514.2:p.Met675Lys