Canonical Allele Identifier: CA390513962

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278792-T-C
• MyVariant Identifiers: chr14:g.77745135T>C (hg19) ; chr14:g.77278792T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278792T>C , CM000676.2:g.77278792T>C	GRCh38
NC_000014.8:g.77745135T>C , CM000676.1:g.77745135T>C	GRCh37
NC_000014.7:g.76814888T>C	NCBI36
NG_008897.1:g.47091A>G , LRG_844:g.47091A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.894A>G
ENST00000556394.2:c.1510A>G	ENSP00000451967.2:p.Met504Val
ENST00000682128.1:c.270A>G	ENSP00000506976.1:n.270A>G
ENST00000682247.1:c.1958A>G	ENSP00000507213.1:p.Asp653Gly
ENST00000682395.1:n.2433A>G
ENST00000682459.1:n.1672A>G
ENST00000682467.1:c.1892-284A>G	ENSP00000508062.1:n.1892-284A>G
ENST00000682615.1:n.323A>G
ENST00000682795.1:c.2116A>G	ENSP00000507574.1:p.Met706Val
ENST00000682895.1:n.1685A>G
ENST00000682955.1:n.1543A>G
ENST00000683095.1:c.375A>G	ENSP00000508040.1:n.375A>G
ENST00000683188.1:c.2230A>G
ENST00000683380.1:n.1633A>G
ENST00000683828.1:c.1678A>G
ENST00000683907.1:c.234A>G	ENSP00000507754.1:p.Ter78Trp
ENST00000684172.1:c.345A>G	ENSP00000508391.1:n.345A>G
ENST00000684259.1:n.3736A>G
ENST00000684538.1:n.1348A>G
ENST00000684549.1:n.1520A>G
ENST00000261534.9:c.1969A>G MANE Select	ENSP00000261534.4:p.Met657Val
ENST00000261534.8:c.1969A>G	ENSP00000261534.4:p.Met657Val
ENST00000452340.7:n.2945A>G
ENST00000554767.5:n.2755A>G
ENST00000555710.1:c.330A>G	ENSP00000451730.1:n.330A>G
ENST00000556171.1:c.561A>G
ENST00000556394.1:c.88-284A>G
ENST00000556446.1:n.270A>G
ENST00000602717.5:c.184A>G	ENSP00000487704.1:p.Met62Val
NM_013382.5:c.1969A>G , LRG_844t1:c.1969A>G	NP_037514.2:p.Met657Val
XM_011536675.1:c.2158A>G	XP_011534977.1:p.Met720Val
XM_011536676.1:c.1825A>G	XP_011534978.1:p.Met609Val
XM_011536677.1:c.1699A>G	XP_011534979.1:p.Met567Val
XM_011536679.1:c.1252A>G	XP_011534981.1:p.Met418Val
XR_943416.1:n.2222A>G
XM_011536675.2:c.2158A>G	XP_011534977.1:p.Met720Val
XM_011536676.2:c.1825A>G	XP_011534978.1:p.Met609Val
XM_011536677.3:c.1699A>G	XP_011534979.1:p.Met567Val
XR_001750279.1:n.2255A>G
XR_001750282.1:n.2908A>G
XR_943416.3:n.2220A>G
NM_013382.6:c.1969A>G	NP_037514.2:p.Met657Val
NM_013382.7:c.1969A>G MANE Select	NP_037514.2:p.Met657Val