Canonical Allele Identifier: CA2148342223

Gene: POMT2

Linked Data

• dbSNP Id: rs1891015313
• gnomAD v4: 14-77301009-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301009A>G , CM000676.2:g.77301009A>G	GRCh38
NC_000014.8:g.77767352A>G , CM000676.1:g.77767352A>G	GRCh37
NC_000014.7:g.76837105A>G	NCBI36
NG_008897.1:g.24874T>C , LRG_844:g.24874T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.269+81T>C	ENSP00000508202.1:n.269+81T>C
ENST00000556394.2:c.358-1448T>C	ENSP00000451967.2:n.358-1448T>C
ENST00000557289.2:c.160+81T>C
ENST00000682247.1:c.816+81T>C	ENSP00000507213.1:n.816+81T>C
ENST00000682382.1:c.496-2238T>C
ENST00000682395.1:n.545+81T>C
ENST00000682459.1:n.480+81T>C
ENST00000682467.1:c.816+81T>C	ENSP00000508062.1:n.816+81T>C
ENST00000682795.1:c.816+81T>C	ENSP00000507574.1:n.816+81T>C
ENST00000682895.1:n.532+81T>C
ENST00000682955.1:n.212-2238T>C
ENST00000683167.1:c.160+81T>C
ENST00000683188.1:c.343-1448T>C
ENST00000683300.1:c.109+3683T>C	ENSP00000507630.1:n.109+3683T>C
ENST00000683328.1:c.109+3683T>C	ENSP00000508096.1:n.109+3683T>C
ENST00000683380.1:n.480+81T>C
ENST00000683398.1:c.161-8T>C
ENST00000683551.1:c.109+1826T>C
ENST00000683828.1:c.526-1448T>C
ENST00000684259.1:n.667+81T>C
ENST00000684549.1:n.368-1448T>C
ENST00000684554.1:c.160+81T>C
ENST00000261534.9:c.816+81T>C MANE Select	ENSP00000261534.4:n.816+81T>C
ENST00000261534.8:c.816+81T>C	ENSP00000261534.4:n.816+81T>C
ENST00000452340.7:n.839+81T>C
ENST00000553863.5:n.480+81T>C
ENST00000554767.5:n.155T>C
ENST00000556326.5:c.*482+81T>C	ENSP00000450630.1:n.*482+81T>C
ENST00000557289.1:c.56-1448T>C	ENSP00000451115.1:n.56-1448T>C
NM_013382.5:c.816+81T>C , LRG_844t1:c.816+81T>C	NP_037514.2:n.816+81T>C
XM_011536675.1:c.816+81T>C	XP_011534977.1:n.816+81T>C
XM_011536676.1:c.483+81T>C	XP_011534978.1:n.483+81T>C
XM_011536677.1:c.547+3683T>C	XP_011534979.1:n.547+3683T>C
XM_011536678.1:c.816+81T>C	XP_011534980.1:n.816+81T>C
XM_011536679.1:c.-90-1448T>C	XP_011534981.1:n.-90-1448T>C
XM_011536680.1:c.816+81T>C	XP_011534982.1:n.816+81T>C
XR_943416.1:n.1019+81T>C
XM_011536675.2:c.816+81T>C	XP_011534977.1:n.816+81T>C
XM_011536676.2:c.483+81T>C	XP_011534978.1:n.483+81T>C
XM_011536677.3:c.547+3683T>C	XP_011534979.1:n.547+3683T>C
XR_001750279.1:n.1016+81T>C
XR_001750282.1:n.1020+81T>C
XR_943416.3:n.1017+81T>C
NM_013382.6:c.816+81T>C	NP_037514.2:n.816+81T>C
NM_013382.7:c.816+81T>C MANE Select	NP_037514.2:n.816+81T>C