Canonical Allele Identifier: CA7285574

Gene: POMT2

Linked Data

• dbSNP Id: rs767559645
• ExAC: 14:77745096 T / C
• gnomAD v2: 14-77745096-T-C
• gnomAD v4: 14-77278753-T-C
• MyVariant Identifiers: chr14:g.77745096T>C (hg19) ; chr14:g.77278753T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278753T>C , CM000676.2:g.77278753T>C	GRCh38
NC_000014.8:g.77745096T>C , CM000676.1:g.77745096T>C	GRCh37
NC_000014.7:g.76814849T>C	NCBI36
NG_008897.1:g.47130A>G , LRG_844:g.47130A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.933A>G
ENST00000556394.2:c.1549A>G	ENSP00000451967.2:p.Met517Val
ENST00000682128.1:c.309A>G	ENSP00000506976.1:n.309A>G
ENST00000682247.1:c.1997A>G	ENSP00000507213.1:p.His666Arg
ENST00000682395.1:n.2472A>G
ENST00000682459.1:n.1711A>G
ENST00000682467.1:c.1892-245A>G	ENSP00000508062.1:n.1892-245A>G
ENST00000682615.1:n.362A>G
ENST00000682795.1:c.2155A>G	ENSP00000507574.1:p.Met719Val
ENST00000682895.1:n.1724A>G
ENST00000682955.1:n.1582A>G
ENST00000683095.1:c.414A>G	ENSP00000508040.1:n.414A>G
ENST00000683188.1:c.2269A>G
ENST00000683380.1:n.1672A>G
ENST00000683907.1:c.273A>G	ENSP00000507754.1:n.273A>G
ENST00000684172.1:c.384A>G	ENSP00000508391.1:n.384A>G
ENST00000684259.1:n.3775A>G
ENST00000684538.1:n.1387A>G
ENST00000684549.1:n.1559A>G
ENST00000261534.9:c.2008A>G MANE Select	ENSP00000261534.4:p.Met670Val
ENST00000261534.8:c.2008A>G	ENSP00000261534.4:p.Met670Val
ENST00000452340.7:n.2984A>G
ENST00000554767.5:n.2794A>G
ENST00000555710.1:c.369A>G	ENSP00000451730.1:n.369A>G
ENST00000556394.1:c.88-245A>G
ENST00000556446.1:n.309A>G
ENST00000602717.5:c.223A>G	ENSP00000487704.1:p.Met75Val
NM_013382.5:c.2008A>G , LRG_844t1:c.2008A>G	NP_037514.2:p.Met670Val
XM_011536675.1:c.2197A>G	XP_011534977.1:p.Met733Val
XM_011536676.1:c.1864A>G	XP_011534978.1:p.Met622Val
XM_011536677.1:c.1738A>G	XP_011534979.1:p.Met580Val
XM_011536679.1:c.1291A>G	XP_011534981.1:p.Met431Val
XR_943416.1:n.2261A>G
XM_011536675.2:c.2197A>G	XP_011534977.1:p.Met733Val
XM_011536676.2:c.1864A>G	XP_011534978.1:p.Met622Val
XM_011536677.3:c.1738A>G	XP_011534979.1:p.Met580Val
XR_001750279.1:n.2294A>G
XR_001750282.1:n.2947A>G
XR_943416.3:n.2259A>G
NM_013382.6:c.2008A>G	NP_037514.2:p.Met670Val
NM_013382.7:c.2008A>G MANE Select	NP_037514.2:p.Met670Val