Canonical Allele Identifier: CA7285905

Gene: POMT2

Linked Data

• dbSNP Id: rs727502855
• ExAC: 14:77753158 G / C
• gnomAD v2: 14-77753158-G-C
• gnomAD v4: 14-77286815-G-C
• MyVariant Identifiers: chr14:g.77753158G>C (hg19) ; chr14:g.77286815G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286815G>C , CM000676.2:g.77286815G>C	GRCh38
NC_000014.8:g.77753158G>C , CM000676.1:g.77753158G>C	GRCh37
NC_000014.7:g.76822911G>C	NCBI36
NG_008897.1:g.39068C>G , LRG_844:g.39068C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000556394.2:c.802C>G	ENSP00000451967.2:p.Arg268Gly
ENST00000682247.1:c.1261C>G	ENSP00000507213.1:p.Arg421Gly
ENST00000682382.1:c.833C>G
ENST00000682395.1:n.1439C>G
ENST00000682459.1:n.964C>G
ENST00000682467.1:c.1261C>G	ENSP00000508062.1:p.Arg421Gly
ENST00000682706.1:n.38C>G
ENST00000682795.1:c.1261C>G	ENSP00000507574.1:p.Arg421Gly
ENST00000682895.1:n.977C>G
ENST00000682955.1:n.549C>G
ENST00000683188.1:c.1236C>G
ENST00000683328.1:c.254C>G	ENSP00000508096.1:n.254C>G
ENST00000683380.1:n.925C>G
ENST00000683828.1:c.970C>G
ENST00000684259.1:n.1112C>G
ENST00000684444.1:c.8C>G
ENST00000684549.1:n.812C>G
ENST00000261534.9:c.1261C>G MANE Select	ENSP00000261534.4:p.Arg421Gly
ENST00000261534.8:c.1261C>G	ENSP00000261534.4:p.Arg421Gly
ENST00000452340.7:n.1284C>G
ENST00000553880.5:n.132C>G
ENST00000554767.5:n.2047C>G
ENST00000554884.5:n.253C>G
ENST00000556404.1:n.395C>G
ENST00000556851.1:n.297C>G
ENST00000557675.5:n.351C>G
NM_013382.5:c.1261C>G , LRG_844t1:c.1261C>G	NP_037514.2:p.Arg421Gly
XM_011536675.1:c.1261C>G	XP_011534977.1:p.Arg421Gly
XM_011536676.1:c.928C>G	XP_011534978.1:p.Arg310Gly
XM_011536677.1:c.802C>G	XP_011534979.1:p.Arg268Gly
XM_011536678.1:c.1261C>G	XP_011534980.1:p.Arg421Gly
XM_011536679.1:c.355C>G	XP_011534981.1:p.Arg119Gly
XR_943416.1:n.1464C>G
XM_011536675.2:c.1261C>G	XP_011534977.1:p.Arg421Gly
XM_011536676.2:c.928C>G	XP_011534978.1:p.Arg310Gly
XM_011536677.3:c.802C>G	XP_011534979.1:p.Arg268Gly
XR_001750279.1:n.1461C>G
XR_001750282.1:n.1914C>G
XR_943416.3:n.1462C>G
NM_013382.6:c.1261C>G	NP_037514.2:p.Arg421Gly
NM_013382.7:c.1261C>G MANE Select	NP_037514.2:p.Arg421Gly