Canonical Allele Identifier: CA2625847505

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306111-C-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306111C>G , CM000676.2:g.77306111C>G	GRCh38
NC_000014.8:g.77772454C>G , CM000676.1:g.77772454C>G	GRCh37
NC_000014.7:g.76842207C>G	NCBI36
NG_008897.1:g.19772G>C , LRG_844:g.19772G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.393G>C
ENST00000556394.2:c.249-1311G>C	ENSP00000451967.2:n.249-1311G>C
ENST00000556880.6:n.462+135G>C
ENST00000682247.1:c.438+226G>C	ENSP00000507213.1:n.438+226G>C
ENST00000682382.1:c.386+226G>C
ENST00000682395.1:n.167+226G>C
ENST00000682459.1:n.102+291G>C
ENST00000682467.1:c.438+226G>C	ENSP00000508062.1:n.438+226G>C
ENST00000682795.1:c.438+226G>C	ENSP00000507574.1:n.438+226G>C
ENST00000682895.1:n.154+226G>C
ENST00000682955.1:n.102+291G>C
ENST00000683188.1:c.233+226G>C
ENST00000683380.1:n.102+291G>C
ENST00000683828.1:c.307+226G>C
ENST00000684102.1:n.410G>C
ENST00000684259.1:n.289+226G>C
ENST00000684479.1:n.105+226G>C
ENST00000684549.1:n.258+135G>C
ENST00000684600.1:c.252+226G>C
ENST00000684670.1:n.105+226G>C
ENST00000261534.9:c.438+226G>C MANE Select	ENSP00000261534.4:n.438+226G>C
ENST00000261534.8:c.438+226G>C	ENSP00000261534.4:n.438+226G>C
ENST00000452340.7:n.461+226G>C
ENST00000553863.5:n.102+291G>C
ENST00000554948.1:c.165+226G>C	ENSP00000452060.1:n.165+226G>C
ENST00000555675.5:n.154+226G>C
ENST00000555788.5:n.363+135G>C
ENST00000556326.5:c.*104+226G>C	ENSP00000450630.1:n.*104+226G>C
ENST00000556880.5:n.462+135G>C
ENST00000557525.1:n.528+226G>C
NM_013382.5:c.438+226G>C , LRG_844t1:c.438+226G>C	NP_037514.2:n.438+226G>C
XM_011536675.1:c.438+226G>C	XP_011534977.1:n.438+226G>C
XM_011536676.1:c.105+226G>C	XP_011534978.1:n.105+226G>C
XM_011536677.1:c.438+226G>C	XP_011534979.1:n.438+226G>C
XM_011536678.1:c.438+226G>C	XP_011534980.1:n.438+226G>C
XM_011536679.1:c.-200+135G>C	XP_011534981.1:n.-200+135G>C
XM_011536680.1:c.438+226G>C	XP_011534982.1:n.438+226G>C
XR_943416.1:n.641+226G>C
XM_011536675.2:c.438+226G>C	XP_011534977.1:n.438+226G>C
XM_011536676.2:c.105+226G>C	XP_011534978.1:n.105+226G>C
XM_011536677.3:c.438+226G>C	XP_011534979.1:n.438+226G>C
XR_001750279.1:n.638+226G>C
XR_001750282.1:n.642+226G>C
XR_943416.3:n.639+226G>C
NM_013382.6:c.438+226G>C	NP_037514.2:n.438+226G>C
NM_013382.7:c.438+226G>C MANE Select	NP_037514.2:n.438+226G>C