Canonical Allele Identifier: CA615199664

Gene: POMT2

Linked Data

• dbSNP Id: rs148993078
• gnomAD v2: 14-77753056-C-A
• gnomAD v3: 14-77286713-C-A
• gnomAD v4: 14-77286713-C-A
• MyVariant Identifiers: chr14:g.77753056C>A (hg19) ; chr14:g.77286713C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286713C>A , CM000676.2:g.77286713C>A	GRCh38
NC_000014.8:g.77753056C>A , CM000676.1:g.77753056C>A	GRCh37
NC_000014.7:g.76822809C>A	NCBI36
NG_008897.1:g.39170G>T , LRG_844:g.39170G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.873+31G>T	ENSP00000451967.2:n.873+31G>T
ENST00000682247.1:c.1332+31G>T	ENSP00000507213.1:n.1332+31G>T
ENST00000682382.1:c.904+31G>T
ENST00000682395.1:n.1510+31G>T
ENST00000682459.1:n.1035+31G>T
ENST00000682467.1:c.1332+31G>T	ENSP00000508062.1:n.1332+31G>T
ENST00000682795.1:c.1332+31G>T	ENSP00000507574.1:n.1332+31G>T
ENST00000682895.1:n.1048+31G>T
ENST00000682955.1:n.620+31G>T
ENST00000683188.1:c.1307+31G>T
ENST00000683380.1:n.996+31G>T
ENST00000683828.1:c.1041+31G>T
ENST00000684259.1:n.1183+31G>T
ENST00000684444.1:c.83+27G>T
ENST00000684549.1:n.883+31G>T
ENST00000261534.9:c.1332+31G>T MANE Select	ENSP00000261534.4:n.1332+31G>T
ENST00000261534.8:c.1332+31G>T	ENSP00000261534.4:n.1332+31G>T
ENST00000452340.7:n.1355+31G>T
ENST00000553880.5:n.203+31G>T
ENST00000554767.5:n.2118+31G>T
ENST00000554884.5:n.324+31G>T
ENST00000556404.1:n.466+31G>T
ENST00000557675.5:n.422+31G>T
NM_013382.5:c.1332+31G>T , LRG_844t1:c.1332+31G>T	NP_037514.2:n.1332+31G>T
XM_011536675.1:c.1332+31G>T	XP_011534977.1:n.1332+31G>T
XM_011536676.1:c.999+31G>T	XP_011534978.1:n.999+31G>T
XM_011536677.1:c.873+31G>T	XP_011534979.1:n.873+31G>T
XM_011536678.1:c.1332+31G>T	XP_011534980.1:n.1332+31G>T
XM_011536679.1:c.426+31G>T	XP_011534981.1:n.426+31G>T
XR_943416.1:n.1535+31G>T
XM_011536675.2:c.1332+31G>T	XP_011534977.1:n.1332+31G>T
XM_011536676.2:c.999+31G>T	XP_011534978.1:n.999+31G>T
XM_011536677.3:c.873+31G>T	XP_011534979.1:n.873+31G>T
XR_001750279.1:n.1532+31G>T
XR_001750282.1:n.1985+31G>T
XR_943416.3:n.1533+31G>T
NM_013382.6:c.1332+31G>T	NP_037514.2:n.1332+31G>T
NM_013382.7:c.1332+31G>T MANE Select	NP_037514.2:n.1332+31G>T