Canonical Allele Identifier: CA2625847994

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306654-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306654G>A , CM000676.2:g.77306654G>A	GRCh38
NC_000014.8:g.77772997G>A , CM000676.1:g.77772997G>A	GRCh37
NC_000014.7:g.76842750G>A	NCBI36
NG_008897.1:g.19229C>T , LRG_844:g.19229C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.249-1854C>T	ENSP00000451967.2:n.249-1854C>T
ENST00000556880.6:n.244C>T
ENST00000682247.1:c.334-213C>T	ENSP00000507213.1:n.334-213C>T
ENST00000682382.1:c.282-213C>T
ENST00000682467.1:c.334-213C>T	ENSP00000508062.1:n.334-213C>T
ENST00000682795.1:c.334-213C>T	ENSP00000507574.1:n.334-213C>T
ENST00000683188.1:c.129-213C>T
ENST00000683828.1:c.203-213C>T
ENST00000684066.1:n.29-213C>T
ENST00000684102.1:n.80-213C>T
ENST00000684259.1:n.185-213C>T
ENST00000684600.1:c.148-213C>T
ENST00000684746.1:n.31-213C>T
ENST00000261534.9:c.334-213C>T MANE Select	ENSP00000261534.4:n.334-213C>T
ENST00000261534.8:c.334-213C>T	ENSP00000261534.4:n.334-213C>T
ENST00000452340.7:n.357-213C>T
ENST00000554948.1:c.61-213C>T	ENSP00000452060.1:n.61-213C>T
ENST00000555788.5:n.168-213C>T
ENST00000556326.5:c.249-213C>T	ENSP00000450630.1:n.249-213C>T
ENST00000556880.5:n.244C>T
ENST00000557525.1:n.424-213C>T
NM_013382.5:c.334-213C>T , LRG_844t1:c.334-213C>T	NP_037514.2:n.334-213C>T
XM_011536675.1:c.334-213C>T	XP_011534977.1:n.334-213C>T
XM_011536676.1:c.1-213C>T	XP_011534978.1:n.1-213C>T
XM_011536677.1:c.334-213C>T	XP_011534979.1:n.334-213C>T
XM_011536678.1:c.334-213C>T	XP_011534980.1:n.334-213C>T
XM_011536680.1:c.334-213C>T	XP_011534982.1:n.334-213C>T
XR_943416.1:n.537-213C>T
XM_011536675.2:c.334-213C>T	XP_011534977.1:n.334-213C>T
XM_011536676.2:c.1-213C>T	XP_011534978.1:n.1-213C>T
XM_011536677.3:c.334-213C>T	XP_011534979.1:n.334-213C>T
XR_001750279.1:n.534-213C>T
XR_001750282.1:n.538-213C>T
XR_943416.3:n.535-213C>T
NM_013382.6:c.334-213C>T	NP_037514.2:n.334-213C>T
NM_013382.7:c.334-213C>T MANE Select	NP_037514.2:n.334-213C>T