Canonical Allele Identifier: CA390520178

Gene: POMT2

Linked Data

• ClinVar Variation Id: 851201
• ClinVar RCV Id: RCV001055546
• dbSNP Id: rs1891021273
• MyVariant Identifiers: chr14:g.77767482T>A (hg19) ; chr14:g.77301139T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301139T>A , CM000676.2:g.77301139T>A	GRCh38
NC_000014.8:g.77767482T>A , CM000676.1:g.77767482T>A	GRCh37
NC_000014.7:g.76837235T>A	NCBI36
NG_008897.1:g.24744A>T , LRG_844:g.24744A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.220A>T	ENSP00000508202.1:n.220A>T
ENST00000556394.2:c.358-1578A>T	ENSP00000451967.2:n.358-1578A>T
ENST00000557289.2:c.111A>T
ENST00000682247.1:c.767A>T	ENSP00000507213.1:p.Asn256Ile
ENST00000682382.1:c.496-2368A>T
ENST00000682395.1:n.496A>T
ENST00000682459.1:n.431A>T
ENST00000682467.1:c.767A>T	ENSP00000508062.1:p.Asn256Ile
ENST00000682795.1:c.767A>T	ENSP00000507574.1:p.Asn256Ile
ENST00000682895.1:n.483A>T
ENST00000682955.1:n.212-2368A>T
ENST00000683167.1:c.111A>T
ENST00000683188.1:c.343-1578A>T
ENST00000683300.1:c.109+3553A>T	ENSP00000507630.1:n.109+3553A>T
ENST00000683328.1:c.109+3553A>T	ENSP00000508096.1:n.109+3553A>T
ENST00000683380.1:n.431A>T
ENST00000683398.1:c.111A>T
ENST00000683551.1:c.109+1696A>T
ENST00000683828.1:c.526-1578A>T
ENST00000684259.1:n.618A>T
ENST00000684549.1:n.368-1578A>T
ENST00000684554.1:c.111A>T
ENST00000261534.9:c.767A>T MANE Select	ENSP00000261534.4:p.Asn256Ile
ENST00000261534.8:c.767A>T	ENSP00000261534.4:p.Asn256Ile
ENST00000452340.7:n.790A>T
ENST00000553863.5:n.431A>T
ENST00000554767.5:n.25A>T
ENST00000555675.5:n.483A>T
ENST00000556326.5:c.*433A>T	ENSP00000450630.1:n.*433A>T
ENST00000557289.1:c.56-1578A>T	ENSP00000451115.1:n.56-1578A>T
NM_013382.5:c.767A>T , LRG_844t1:c.767A>T	NP_037514.2:p.Asn256Ile
XM_011536675.1:c.767A>T	XP_011534977.1:p.Asn256Ile
XM_011536676.1:c.434A>T	XP_011534978.1:p.Asn145Ile
XM_011536677.1:c.547+3553A>T	XP_011534979.1:n.547+3553A>T
XM_011536678.1:c.767A>T	XP_011534980.1:p.Asn256Ile
XM_011536679.1:c.-90-1578A>T	XP_011534981.1:n.-90-1578A>T
XM_011536680.1:c.767A>T	XP_011534982.1:p.Asn256Ile
XR_943416.1:n.970A>T
XM_011536675.2:c.767A>T	XP_011534977.1:p.Asn256Ile
XM_011536676.2:c.434A>T	XP_011534978.1:p.Asn145Ile
XM_011536677.3:c.547+3553A>T	XP_011534979.1:n.547+3553A>T
XR_001750279.1:n.967A>T
XR_001750282.1:n.971A>T
XR_943416.3:n.968A>T
NM_013382.6:c.767A>T	NP_037514.2:p.Asn256Ile
NM_013382.7:c.767A>T MANE Select	NP_037514.2:p.Asn256Ile