Canonical Allele Identifier: CA2625844195

Gene: POMT2

Linked Data

• gnomAD v4: 14-77287011-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77287011A>G , CM000676.2:g.77287011A>G	GRCh38
NC_000014.8:g.77753354A>G , CM000676.1:g.77753354A>G	GRCh37
NC_000014.7:g.76823107A>G	NCBI36
NG_008897.1:g.38872T>C , LRG_844:g.38872T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.795-189T>C	ENSP00000451967.2:n.795-189T>C
ENST00000682247.1:c.1254-189T>C	ENSP00000507213.1:n.1254-189T>C
ENST00000682382.1:c.826-189T>C
ENST00000682395.1:n.1243T>C
ENST00000682459.1:n.957-189T>C
ENST00000682467.1:c.1254-189T>C	ENSP00000508062.1:n.1254-189T>C
ENST00000682706.1:n.2T>C
ENST00000682795.1:c.1254-189T>C	ENSP00000507574.1:n.1254-189T>C
ENST00000682895.1:n.970-189T>C
ENST00000682955.1:n.542-189T>C
ENST00000683188.1:c.1040T>C
ENST00000683328.1:c.247-189T>C	ENSP00000508096.1:n.247-189T>C
ENST00000683380.1:n.918-189T>C
ENST00000683828.1:c.963-189T>C
ENST00000684259.1:n.1105-189T>C
ENST00000684549.1:n.805-189T>C
ENST00000261534.9:c.1254-189T>C MANE Select	ENSP00000261534.4:n.1254-189T>C
ENST00000261534.8:c.1254-189T>C	ENSP00000261534.4:n.1254-189T>C
ENST00000452340.7:n.1277-189T>C
ENST00000553880.5:n.125-189T>C
ENST00000554767.5:n.2040-189T>C
ENST00000554884.5:n.246-189T>C
ENST00000556404.1:n.199T>C
ENST00000556851.1:n.290-189T>C
ENST00000557675.5:n.344-189T>C
NM_013382.5:c.1254-189T>C , LRG_844t1:c.1254-189T>C	NP_037514.2:n.1254-189T>C
XM_011536675.1:c.1254-189T>C	XP_011534977.1:n.1254-189T>C
XM_011536676.1:c.921-189T>C	XP_011534978.1:n.921-189T>C
XM_011536677.1:c.795-189T>C	XP_011534979.1:n.795-189T>C
XM_011536678.1:c.1254-189T>C	XP_011534980.1:n.1254-189T>C
XM_011536679.1:c.348-189T>C	XP_011534981.1:n.348-189T>C
XM_011536680.1:c.*218T>C	XP_011534982.1:n.*218T>C
XR_943416.1:n.1457-189T>C
XM_011536675.2:c.1254-189T>C	XP_011534977.1:n.1254-189T>C
XM_011536676.2:c.921-189T>C	XP_011534978.1:n.921-189T>C
XM_011536677.3:c.795-189T>C	XP_011534979.1:n.795-189T>C
XR_001750279.1:n.1454-189T>C
XR_001750282.1:n.1718T>C
XR_943416.3:n.1455-189T>C
NM_013382.6:c.1254-189T>C	NP_037514.2:n.1254-189T>C
NM_013382.7:c.1254-189T>C MANE Select	NP_037514.2:n.1254-189T>C