Canonical Allele Identifier: CA390520939

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306351-T-A
• MyVariant Identifiers: chr14:g.77772694T>A (hg19) ; chr14:g.77306351T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306351T>A , CM000676.2:g.77306351T>A	GRCh38
NC_000014.8:g.77772694T>A , CM000676.1:g.77772694T>A	GRCh37
NC_000014.7:g.76842447T>A	NCBI36
NG_008897.1:g.19532A>T , LRG_844:g.19532A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.153A>T
ENST00000556394.2:c.249-1551A>T	ENSP00000451967.2:n.249-1551A>T
ENST00000556880.6:n.357A>T
ENST00000682247.1:c.424A>T	ENSP00000507213.1:p.Met142Leu
ENST00000682382.1:c.372A>T
ENST00000682395.1:n.153A>T
ENST00000682459.1:n.102+51A>T
ENST00000682467.1:c.424A>T	ENSP00000508062.1:p.Met142Leu
ENST00000682795.1:c.424A>T	ENSP00000507574.1:p.Met142Leu
ENST00000682895.1:n.140A>T
ENST00000682955.1:n.102+51A>T
ENST00000683188.1:c.219A>T
ENST00000683380.1:n.102+51A>T
ENST00000683828.1:c.293A>T
ENST00000684066.1:n.119A>T
ENST00000684102.1:n.170A>T
ENST00000684259.1:n.275A>T
ENST00000684479.1:n.91A>T
ENST00000684549.1:n.153A>T
ENST00000684600.1:c.238A>T
ENST00000684670.1:n.91A>T
ENST00000684746.1:n.121A>T
ENST00000261534.9:c.424A>T MANE Select	ENSP00000261534.4:p.Met142Leu
ENST00000261534.8:c.424A>T	ENSP00000261534.4:p.Met142Leu
ENST00000452340.7:n.447A>T
ENST00000553863.5:n.102+51A>T
ENST00000554948.1:c.151A>T	ENSP00000452060.1:p.Met51Leu
ENST00000555675.5:n.140A>T
ENST00000555788.5:n.258A>T
ENST00000556326.5:c.*90A>T	ENSP00000450630.1:n.*90A>T
ENST00000556880.5:n.357A>T
ENST00000557525.1:n.514A>T
NM_013382.5:c.424A>T , LRG_844t1:c.424A>T	NP_037514.2:p.Met142Leu
XM_011536675.1:c.424A>T	XP_011534977.1:p.Met142Leu
XM_011536676.1:c.91A>T	XP_011534978.1:p.Met31Leu
XM_011536677.1:c.424A>T	XP_011534979.1:p.Met142Leu
XM_011536678.1:c.424A>T	XP_011534980.1:p.Met142Leu
XM_011536680.1:c.424A>T	XP_011534982.1:p.Met142Leu
XR_943416.1:n.627A>T
XM_011536675.2:c.424A>T	XP_011534977.1:p.Met142Leu
XM_011536676.2:c.91A>T	XP_011534978.1:p.Met31Leu
XM_011536677.3:c.424A>T	XP_011534979.1:p.Met142Leu
XR_001750279.1:n.624A>T
XR_001750282.1:n.628A>T
XR_943416.3:n.625A>T
NM_013382.6:c.424A>T	NP_037514.2:p.Met142Leu
NM_013382.7:c.424A>T MANE Select	NP_037514.2:p.Met142Leu