Canonical Allele Identifier: CA708713608

Gene: POMT2

Linked Data

• dbSNP Id: rs1327779559
• gnomAD v4: 14-77287081-G-A
• MyVariant Identifiers: chr14:g.77753424G>A (hg19) ; chr14:g.77287081G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77287081G>A , CM000676.2:g.77287081G>A	GRCh38
NC_000014.8:g.77753424G>A , CM000676.1:g.77753424G>A	GRCh37
NC_000014.7:g.76823177G>A	NCBI36
NG_008897.1:g.38802C>T , LRG_844:g.38802C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.795-259C>T	ENSP00000451967.2:n.795-259C>T
ENST00000682247.1:c.1254-259C>T	ENSP00000507213.1:n.1254-259C>T
ENST00000682382.1:c.826-259C>T
ENST00000682395.1:n.1173C>T
ENST00000682459.1:n.956+152C>T
ENST00000682467.1:c.1254-259C>T	ENSP00000508062.1:n.1254-259C>T
ENST00000682795.1:c.1254-259C>T	ENSP00000507574.1:n.1254-259C>T
ENST00000682895.1:n.970-259C>T
ENST00000682955.1:n.542-259C>T
ENST00000683188.1:c.970C>T
ENST00000683328.1:c.247-259C>T	ENSP00000508096.1:n.247-259C>T
ENST00000683380.1:n.918-259C>T
ENST00000683828.1:c.963-259C>T
ENST00000684259.1:n.1105-259C>T
ENST00000684549.1:n.805-259C>T
ENST00000261534.9:c.1254-259C>T MANE Select	ENSP00000261534.4:n.1254-259C>T
ENST00000261534.8:c.1254-259C>T	ENSP00000261534.4:n.1254-259C>T
ENST00000452340.7:n.1277-259C>T
ENST00000553880.5:n.125-259C>T
ENST00000554767.5:n.2040-259C>T
ENST00000554884.5:n.246-259C>T
ENST00000556404.1:n.129C>T
ENST00000556851.1:n.289+152C>T
ENST00000557675.5:n.344-259C>T
NM_013382.5:c.1254-259C>T , LRG_844t1:c.1254-259C>T	NP_037514.2:n.1254-259C>T
XM_011536675.1:c.1254-259C>T	XP_011534977.1:n.1254-259C>T
XM_011536676.1:c.921-259C>T	XP_011534978.1:n.921-259C>T
XM_011536677.1:c.795-259C>T	XP_011534979.1:n.795-259C>T
XM_011536678.1:c.1254-259C>T	XP_011534980.1:n.1254-259C>T
XM_011536679.1:c.348-259C>T	XP_011534981.1:n.348-259C>T
XM_011536680.1:c.*148C>T	XP_011534982.1:n.*148C>T
XR_943416.1:n.1457-259C>T
XM_011536675.2:c.1254-259C>T	XP_011534977.1:n.1254-259C>T
XM_011536676.2:c.921-259C>T	XP_011534978.1:n.921-259C>T
XM_011536677.3:c.795-259C>T	XP_011534979.1:n.795-259C>T
XR_001750279.1:n.1454-259C>T
XR_001750282.1:n.1648C>T
XR_943416.3:n.1455-259C>T
NM_013382.6:c.1254-259C>T	NP_037514.2:n.1254-259C>T
NM_013382.7:c.1254-259C>T MANE Select	NP_037514.2:n.1254-259C>T