Canonical Allele Identifier: CA390519836

Gene: POMT2

Linked Data

• ClinVar Variation Id: 449378
• ClinVar RCV Id: RCV000523465 ; RCV000822848 ; RCV003476218
• dbSNP Id: rs886044256
• MyVariant Identifiers: chr14:g.77765116T>G (hg19) ; chr14:g.77298773T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298773T>G , CM000676.2:g.77298773T>G	GRCh38
NC_000014.8:g.77765116T>G , CM000676.1:g.77765116T>G	GRCh37
NC_000014.7:g.76834869T>G	NCBI36
NG_008897.1:g.27110A>C , LRG_844:g.27110A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.465-2A>C	ENSP00000451967.2:n.465-2A>C
ENST00000557289.2:c.222-2A>C
ENST00000682247.1:c.924-2A>C	ENSP00000507213.1:n.924-2A>C
ENST00000682382.1:c.496-2A>C
ENST00000682395.1:n.653-2A>C
ENST00000682459.1:n.588-2A>C
ENST00000682467.1:c.924-2A>C	ENSP00000508062.1:n.924-2A>C
ENST00000682795.1:c.924-2A>C	ENSP00000507574.1:n.924-2A>C
ENST00000682895.1:n.640-2A>C
ENST00000682955.1:n.212-2A>C
ENST00000683188.1:c.450-2A>C
ENST00000683300.1:c.110-2500A>C	ENSP00000507630.1:n.110-2500A>C
ENST00000683328.1:c.109+5919A>C	ENSP00000508096.1:n.109+5919A>C
ENST00000683380.1:n.588-2A>C
ENST00000683551.1:c.110-2A>C
ENST00000683828.1:c.633-2A>C
ENST00000684259.1:n.775-2A>C
ENST00000684549.1:n.475-2A>C
ENST00000684554.1:c.161-2A>C
ENST00000261534.9:c.924-2A>C MANE Select	ENSP00000261534.4:n.924-2A>C
ENST00000261534.8:c.924-2A>C	ENSP00000261534.4:n.924-2A>C
ENST00000452340.7:n.947-2A>C
ENST00000554767.5:n.1710-2A>C
ENST00000557289.1:c.163-2A>C	ENSP00000451115.1:n.163-2A>C
NM_013382.5:c.924-2A>C , LRG_844t1:c.924-2A>C	NP_037514.2:n.924-2A>C
XM_011536675.1:c.924-2A>C	XP_011534977.1:n.924-2A>C
XM_011536676.1:c.591-2A>C	XP_011534978.1:n.591-2A>C
XM_011536677.1:c.548-2500A>C	XP_011534979.1:n.548-2500A>C
XM_011536678.1:c.924-2A>C	XP_011534980.1:n.924-2A>C
XM_011536679.1:c.18-2A>C	XP_011534981.1:n.18-2A>C
XM_011536680.1:c.924-2A>C	XP_011534982.1:n.924-2A>C
XR_943416.1:n.1127-2A>C
XM_011536675.2:c.924-2A>C	XP_011534977.1:n.924-2A>C
XM_011536676.2:c.591-2A>C	XP_011534978.1:n.591-2A>C
XM_011536677.3:c.548-2500A>C	XP_011534979.1:n.548-2500A>C
XR_001750279.1:n.1124-2A>C
XR_001750282.1:n.1128-2A>C
XR_943416.3:n.1125-2A>C
NM_013382.6:c.924-2A>C	NP_037514.2:n.924-2A>C
NM_013382.7:c.924-2A>C MANE Select	NP_037514.2:n.924-2A>C