Canonical Allele Identifier: CA390517761

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77753146T>C (hg19) ; chr14:g.77286803T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286803T>C , CM000676.2:g.77286803T>C	GRCh38
NC_000014.8:g.77753146T>C , CM000676.1:g.77753146T>C	GRCh37
NC_000014.7:g.76822899T>C	NCBI36
NG_008897.1:g.39080A>G , LRG_844:g.39080A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.814A>G	ENSP00000451967.2:p.Ser272Gly
ENST00000682247.1:c.1273A>G	ENSP00000507213.1:p.Ser425Gly
ENST00000682382.1:c.845A>G
ENST00000682395.1:n.1451A>G
ENST00000682459.1:n.976A>G
ENST00000682467.1:c.1273A>G	ENSP00000508062.1:p.Ser425Gly
ENST00000682706.1:n.50A>G
ENST00000682795.1:c.1273A>G	ENSP00000507574.1:p.Ser425Gly
ENST00000682895.1:n.989A>G
ENST00000682955.1:n.561A>G
ENST00000683188.1:c.1248A>G
ENST00000683328.1:c.266A>G	ENSP00000508096.1:n.266A>G
ENST00000683380.1:n.937A>G
ENST00000683828.1:c.982A>G
ENST00000684259.1:n.1124A>G
ENST00000684444.1:c.20A>G
ENST00000684549.1:n.824A>G
ENST00000261534.9:c.1273A>G MANE Select	ENSP00000261534.4:p.Ser425Gly
ENST00000261534.8:c.1273A>G	ENSP00000261534.4:p.Ser425Gly
ENST00000452340.7:n.1296A>G
ENST00000553880.5:n.144A>G
ENST00000554767.5:n.2059A>G
ENST00000554884.5:n.265A>G
ENST00000556404.1:n.407A>G
ENST00000556851.1:n.309A>G
ENST00000557675.5:n.363A>G
NM_013382.5:c.1273A>G , LRG_844t1:c.1273A>G	NP_037514.2:p.Ser425Gly
XM_011536675.1:c.1273A>G	XP_011534977.1:p.Ser425Gly
XM_011536676.1:c.940A>G	XP_011534978.1:p.Ser314Gly
XM_011536677.1:c.814A>G	XP_011534979.1:p.Ser272Gly
XM_011536678.1:c.1273A>G	XP_011534980.1:p.Ser425Gly
XM_011536679.1:c.367A>G	XP_011534981.1:p.Ser123Gly
XR_943416.1:n.1476A>G
XM_011536675.2:c.1273A>G	XP_011534977.1:p.Ser425Gly
XM_011536676.2:c.940A>G	XP_011534978.1:p.Ser314Gly
XM_011536677.3:c.814A>G	XP_011534979.1:p.Ser272Gly
XR_001750279.1:n.1473A>G
XR_001750282.1:n.1926A>G
XR_943416.3:n.1474A>G
NM_013382.6:c.1273A>G	NP_037514.2:p.Ser425Gly
NM_013382.7:c.1273A>G MANE Select	NP_037514.2:p.Ser425Gly