Canonical Allele Identifier: CA2625848002

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306663-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306663C>A , CM000676.2:g.77306663C>A	GRCh38
NC_000014.8:g.77773006C>A , CM000676.1:g.77773006C>A	GRCh37
NC_000014.7:g.76842759C>A	NCBI36
NG_008897.1:g.19220G>T , LRG_844:g.19220G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1863G>T	ENSP00000451967.2:n.249-1863G>T
ENST00000556880.6:n.235G>T
ENST00000682247.1:c.334-222G>T	ENSP00000507213.1:n.334-222G>T
ENST00000682382.1:c.282-222G>T
ENST00000682467.1:c.334-222G>T	ENSP00000508062.1:n.334-222G>T
ENST00000682795.1:c.334-222G>T	ENSP00000507574.1:n.334-222G>T
ENST00000683188.1:c.129-222G>T
ENST00000683828.1:c.203-222G>T
ENST00000684066.1:n.29-222G>T
ENST00000684102.1:n.80-222G>T
ENST00000684259.1:n.185-222G>T
ENST00000684600.1:c.148-222G>T
ENST00000684746.1:n.31-222G>T
ENST00000261534.9:c.334-222G>T MANE Select	ENSP00000261534.4:n.334-222G>T
ENST00000261534.8:c.334-222G>T	ENSP00000261534.4:n.334-222G>T
ENST00000452340.7:n.357-222G>T
ENST00000554948.1:c.61-222G>T	ENSP00000452060.1:n.61-222G>T
ENST00000555788.5:n.168-222G>T
ENST00000556326.5:c.249-222G>T	ENSP00000450630.1:n.249-222G>T
ENST00000556880.5:n.235G>T
ENST00000557525.1:n.424-222G>T
NM_013382.5:c.334-222G>T , LRG_844t1:c.334-222G>T	NP_037514.2:n.334-222G>T
XM_011536675.1:c.334-222G>T	XP_011534977.1:n.334-222G>T
XM_011536676.1:c.1-222G>T	XP_011534978.1:n.1-222G>T
XM_011536677.1:c.334-222G>T	XP_011534979.1:n.334-222G>T
XM_011536678.1:c.334-222G>T	XP_011534980.1:n.334-222G>T
XM_011536680.1:c.334-222G>T	XP_011534982.1:n.334-222G>T
XR_943416.1:n.537-222G>T
XM_011536675.2:c.334-222G>T	XP_011534977.1:n.334-222G>T
XM_011536676.2:c.1-222G>T	XP_011534978.1:n.1-222G>T
XM_011536677.3:c.334-222G>T	XP_011534979.1:n.334-222G>T
XR_001750279.1:n.534-222G>T
XR_001750282.1:n.538-222G>T
XR_943416.3:n.535-222G>T
NM_013382.6:c.334-222G>T	NP_037514.2:n.334-222G>T
NM_013382.7:c.334-222G>T MANE Select	NP_037514.2:n.334-222G>T