Canonical Allele Identifier: CA708713581

Gene: POMT2

Linked Data

• dbSNP Id: rs1476721991
• gnomAD v3: 14-77287008-G-C
• gnomAD v4: 14-77287008-G-C
• MyVariant Identifiers: chr14:g.77753351G>C (hg19) ; chr14:g.77287008G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77287008G>C , CM000676.2:g.77287008G>C	GRCh38
NC_000014.8:g.77753351G>C , CM000676.1:g.77753351G>C	GRCh37
NC_000014.7:g.76823104G>C	NCBI36
NG_008897.1:g.38875C>G , LRG_844:g.38875C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.795-186C>G	ENSP00000451967.2:n.795-186C>G
ENST00000682247.1:c.1254-186C>G	ENSP00000507213.1:n.1254-186C>G
ENST00000682382.1:c.826-186C>G
ENST00000682395.1:n.1246C>G
ENST00000682459.1:n.957-186C>G
ENST00000682467.1:c.1254-186C>G	ENSP00000508062.1:n.1254-186C>G
ENST00000682706.1:n.5C>G
ENST00000682795.1:c.1254-186C>G	ENSP00000507574.1:n.1254-186C>G
ENST00000682895.1:n.970-186C>G
ENST00000682955.1:n.542-186C>G
ENST00000683188.1:c.1043C>G
ENST00000683328.1:c.247-186C>G	ENSP00000508096.1:n.247-186C>G
ENST00000683380.1:n.918-186C>G
ENST00000683828.1:c.963-186C>G
ENST00000684259.1:n.1105-186C>G
ENST00000684549.1:n.805-186C>G
ENST00000261534.9:c.1254-186C>G MANE Select	ENSP00000261534.4:n.1254-186C>G
ENST00000261534.8:c.1254-186C>G	ENSP00000261534.4:n.1254-186C>G
ENST00000452340.7:n.1277-186C>G
ENST00000553880.5:n.125-186C>G
ENST00000554767.5:n.2040-186C>G
ENST00000554884.5:n.246-186C>G
ENST00000556404.1:n.202C>G
ENST00000556851.1:n.290-186C>G
ENST00000557675.5:n.344-186C>G
NM_013382.5:c.1254-186C>G , LRG_844t1:c.1254-186C>G	NP_037514.2:n.1254-186C>G
XM_011536675.1:c.1254-186C>G	XP_011534977.1:n.1254-186C>G
XM_011536676.1:c.921-186C>G	XP_011534978.1:n.921-186C>G
XM_011536677.1:c.795-186C>G	XP_011534979.1:n.795-186C>G
XM_011536678.1:c.1254-186C>G	XP_011534980.1:n.1254-186C>G
XM_011536679.1:c.348-186C>G	XP_011534981.1:n.348-186C>G
XM_011536680.1:c.*221C>G	XP_011534982.1:n.*221C>G
XR_943416.1:n.1457-186C>G
XM_011536675.2:c.1254-186C>G	XP_011534977.1:n.1254-186C>G
XM_011536676.2:c.921-186C>G	XP_011534978.1:n.921-186C>G
XM_011536677.3:c.795-186C>G	XP_011534979.1:n.795-186C>G
XR_001750279.1:n.1454-186C>G
XR_001750282.1:n.1721C>G
XR_943416.3:n.1455-186C>G
NM_013382.6:c.1254-186C>G	NP_037514.2:n.1254-186C>G
NM_013382.7:c.1254-186C>G MANE Select	NP_037514.2:n.1254-186C>G