Canonical Allele Identifier: CA390513723

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.949T>G
ENST00000556394.2:c.1565T>G	ENSP00000451967.2:p.Met522Arg
ENST00000682128.1:c.325T>G	ENSP00000506976.1:n.325T>G
ENST00000682247.1:c.2013T>G	ENSP00000507213.1:p.His671Gln
ENST00000682395.1:n.2488T>G
ENST00000682459.1:n.1727T>G
ENST00000682467.1:c.1892-229T>G	ENSP00000508062.1:n.1892-229T>G
ENST00000682615.1:n.378T>G
ENST00000682795.1:c.2171T>G	ENSP00000507574.1:p.Met724Arg
ENST00000682895.1:n.1740T>G
ENST00000682955.1:n.1598T>G
ENST00000683095.1:c.430T>G	ENSP00000508040.1:n.430T>G
ENST00000683188.1:c.2285T>G
ENST00000683380.1:n.1688T>G
ENST00000683907.1:c.289T>G	ENSP00000507754.1:n.289T>G
ENST00000684172.1:c.400T>G	ENSP00000508391.1:n.400T>G
ENST00000684259.1:n.3791T>G
ENST00000684538.1:n.1403T>G
ENST00000684549.1:n.1575T>G
ENST00000261534.9:c.2024T>G MANE Select	ENSP00000261534.4:p.Met675Arg
ENST00000261534.8:c.2024T>G	ENSP00000261534.4:p.Met675Arg
ENST00000452340.7:n.3000T>G
ENST00000554767.5:n.2810T>G
ENST00000555710.1:c.385T>G	ENSP00000451730.1:n.385T>G
ENST00000556394.1:c.88-229T>G
ENST00000556446.1:n.325T>G
ENST00000602717.5:c.239T>G	ENSP00000487704.1:p.Met80Arg
NM_013382.5:c.2024T>G , LRG_844t1:c.2024T>G	NP_037514.2:p.Met675Arg
XM_011536675.1:c.2213T>G	XP_011534977.1:p.Met738Arg
XM_011536676.1:c.1880T>G	XP_011534978.1:p.Met627Arg
XM_011536677.1:c.1754T>G	XP_011534979.1:p.Met585Arg
XM_011536679.1:c.1307T>G	XP_011534981.1:p.Met436Arg
XR_943416.1:n.2277T>G
XM_011536675.2:c.2213T>G	XP_011534977.1:p.Met738Arg
XM_011536676.2:c.1880T>G	XP_011534978.1:p.Met627Arg
XM_011536677.3:c.1754T>G	XP_011534979.1:p.Met585Arg
XR_001750279.1:n.2310T>G
XR_001750282.1:n.2963T>G
XR_943416.3:n.2275T>G
NM_013382.6:c.2024T>G	NP_037514.2:p.Met675Arg
NM_013382.7:c.2024T>G MANE Select	NP_037514.2:p.Met675Arg