Canonical Allele Identifier: CA390517636

Gene: POMT2

Linked Data

• gnomAD v4: 14-77286746-T-A
• MyVariant Identifiers: chr14:g.77753089T>A (hg19) ; chr14:g.77286746T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77286746T>A , CM000676.2:g.77286746T>A	GRCh38
NC_000014.8:g.77753089T>A , CM000676.1:g.77753089T>A	GRCh37
NC_000014.7:g.76822842T>A	NCBI36
NG_008897.1:g.39137A>T , LRG_844:g.39137A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.871A>T	ENSP00000451967.2:p.Ile291Leu
ENST00000682247.1:c.1330A>T	ENSP00000507213.1:p.Ile444Leu
ENST00000682382.1:c.902A>T
ENST00000682395.1:n.1508A>T
ENST00000682459.1:n.1033A>T
ENST00000682467.1:c.1330A>T	ENSP00000508062.1:p.Ile444Leu
ENST00000682706.1:n.107A>T
ENST00000682795.1:c.1330A>T	ENSP00000507574.1:p.Ile444Leu
ENST00000682895.1:n.1046A>T
ENST00000682955.1:n.618A>T
ENST00000683188.1:c.1305A>T
ENST00000683328.1:c.323A>T	ENSP00000508096.1:n.323A>T
ENST00000683380.1:n.994A>T
ENST00000683828.1:c.1039A>T
ENST00000684259.1:n.1181A>T
ENST00000684444.1:c.77A>T
ENST00000684549.1:n.881A>T
ENST00000261534.9:c.1330A>T MANE Select	ENSP00000261534.4:p.Ile444Leu
ENST00000261534.8:c.1330A>T	ENSP00000261534.4:p.Ile444Leu
ENST00000452340.7:n.1353A>T
ENST00000553880.5:n.201A>T
ENST00000554767.5:n.2116A>T
ENST00000554884.5:n.322A>T
ENST00000556404.1:n.464A>T
ENST00000557675.5:n.420A>T
NM_013382.5:c.1330A>T , LRG_844t1:c.1330A>T	NP_037514.2:p.Ile444Leu
XM_011536675.1:c.1330A>T	XP_011534977.1:p.Ile444Leu
XM_011536676.1:c.997A>T	XP_011534978.1:p.Ile333Leu
XM_011536677.1:c.871A>T	XP_011534979.1:p.Ile291Leu
XM_011536678.1:c.1330A>T	XP_011534980.1:p.Ile444Leu
XM_011536679.1:c.424A>T	XP_011534981.1:p.Ile142Leu
XR_943416.1:n.1533A>T
XM_011536675.2:c.1330A>T	XP_011534977.1:p.Ile444Leu
XM_011536676.2:c.997A>T	XP_011534978.1:p.Ile333Leu
XM_011536677.3:c.871A>T	XP_011534979.1:p.Ile291Leu
XR_001750279.1:n.1530A>T
XR_001750282.1:n.1983A>T
XR_943416.3:n.1531A>T
NM_013382.6:c.1330A>T	NP_037514.2:p.Ile444Leu
NM_013382.7:c.1330A>T MANE Select	NP_037514.2:p.Ile444Leu