Canonical Allele Identifier: CA263841816

Gene: POMT2

Linked Data

• dbSNP Id: rs982591312
• gnomAD v4: 14-77306573-T-A
• MyVariant Identifiers: chr14:g.77772916T>A (hg19) ; chr14:g.77306573T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306573T>A , CM000676.2:g.77306573T>A	GRCh38
NC_000014.8:g.77772916T>A , CM000676.1:g.77772916T>A	GRCh37
NC_000014.7:g.76842669T>A	NCBI36
NG_008897.1:g.19310A>T , LRG_844:g.19310A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1773A>T	ENSP00000451967.2:n.249-1773A>T
ENST00000556880.6:n.266+59A>T
ENST00000682247.1:c.334-132A>T	ENSP00000507213.1:n.334-132A>T
ENST00000682382.1:c.282-132A>T
ENST00000682467.1:c.334-132A>T	ENSP00000508062.1:n.334-132A>T
ENST00000682795.1:c.334-132A>T	ENSP00000507574.1:n.334-132A>T
ENST00000683188.1:c.129-132A>T
ENST00000683828.1:c.203-132A>T
ENST00000684066.1:n.29-132A>T
ENST00000684102.1:n.80-132A>T
ENST00000684259.1:n.185-132A>T
ENST00000684600.1:c.148-132A>T
ENST00000684746.1:n.31-132A>T
ENST00000261534.9:c.334-132A>T MANE Select	ENSP00000261534.4:n.334-132A>T
ENST00000261534.8:c.334-132A>T	ENSP00000261534.4:n.334-132A>T
ENST00000452340.7:n.357-132A>T
ENST00000554948.1:c.61-132A>T	ENSP00000452060.1:n.61-132A>T
ENST00000555788.5:n.168-132A>T
ENST00000556326.5:c.249-132A>T	ENSP00000450630.1:n.249-132A>T
ENST00000556880.5:n.266+59A>T
ENST00000557525.1:n.424-132A>T
NM_013382.5:c.334-132A>T , LRG_844t1:c.334-132A>T	NP_037514.2:n.334-132A>T
XM_011536675.1:c.334-132A>T	XP_011534977.1:n.334-132A>T
XM_011536676.1:c.1-132A>T	XP_011534978.1:n.1-132A>T
XM_011536677.1:c.334-132A>T	XP_011534979.1:n.334-132A>T
XM_011536678.1:c.334-132A>T	XP_011534980.1:n.334-132A>T
XM_011536680.1:c.334-132A>T	XP_011534982.1:n.334-132A>T
XR_943416.1:n.537-132A>T
XM_011536675.2:c.334-132A>T	XP_011534977.1:n.334-132A>T
XM_011536676.2:c.1-132A>T	XP_011534978.1:n.1-132A>T
XM_011536677.3:c.334-132A>T	XP_011534979.1:n.334-132A>T
XR_001750279.1:n.534-132A>T
XR_001750282.1:n.538-132A>T
XR_943416.3:n.535-132A>T
NM_013382.6:c.334-132A>T	NP_037514.2:n.334-132A>T
NM_013382.7:c.334-132A>T MANE Select	NP_037514.2:n.334-132A>T