Canonical Allele Identifier: CA964926666

Gene: POMT2

Linked Data

• dbSNP Id: rs1890074709
• gnomAD v3: 14-77278596-A-C
• gnomAD v4: 14-77278596-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278596A>C , CM000676.2:g.77278596A>C	GRCh38
NC_000014.8:g.77744939A>C , CM000676.1:g.77744939A>C	GRCh37
NC_000014.7:g.76814692A>C	NCBI36
NG_008897.1:g.47287T>G , LRG_844:g.47287T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-88T>G
ENST00000556394.2:c.1574-88T>G	ENSP00000451967.2:n.1574-88T>G
ENST00000682247.1:c.2022-88T>G	ENSP00000507213.1:n.2022-88T>G
ENST00000682395.1:n.2497-88T>G
ENST00000682459.1:n.1736-88T>G
ENST00000682467.1:c.1892-88T>G	ENSP00000508062.1:n.1892-88T>G
ENST00000682795.1:c.2180-88T>G	ENSP00000507574.1:n.2180-88T>G
ENST00000682895.1:n.1749-88T>G
ENST00000682955.1:n.1607-88T>G
ENST00000683188.1:c.2294-88T>G
ENST00000683380.1:n.1697-88T>G
ENST00000683907.1:c.298-88T>G	ENSP00000507754.1:n.298-88T>G
ENST00000684259.1:n.3800-88T>G
ENST00000684538.1:n.1412-88T>G
ENST00000684549.1:n.1584-88T>G
ENST00000261534.9:c.2033-88T>G MANE Select	ENSP00000261534.4:n.2033-88T>G
ENST00000261534.8:c.2033-88T>G	ENSP00000261534.4:n.2033-88T>G
ENST00000452340.7:n.3009-88T>G
ENST00000554767.5:n.2819-88T>G
ENST00000555710.1:c.394-88T>G	ENSP00000451730.1:n.394-88T>G
ENST00000556394.1:c.88-88T>G
ENST00000556446.1:n.334-88T>G
ENST00000602717.5:c.248-88T>G	ENSP00000487704.1:n.248-88T>G
NM_013382.5:c.2033-88T>G , LRG_844t1:c.2033-88T>G	NP_037514.2:n.2033-88T>G
XM_011536675.1:c.2222-88T>G	XP_011534977.1:n.2222-88T>G
XM_011536676.1:c.1889-88T>G	XP_011534978.1:n.1889-88T>G
XM_011536677.1:c.1763-88T>G	XP_011534979.1:n.1763-88T>G
XM_011536679.1:c.1316-88T>G	XP_011534981.1:n.1316-88T>G
XR_943416.1:n.2286-88T>G
XM_011536675.2:c.2222-88T>G	XP_011534977.1:n.2222-88T>G
XM_011536676.2:c.1889-88T>G	XP_011534978.1:n.1889-88T>G
XM_011536677.3:c.1763-88T>G	XP_011534979.1:n.1763-88T>G
XR_001750279.1:n.2319-88T>G
XR_001750282.1:n.2972-88T>G
XR_943416.3:n.2284-88T>G
NM_013382.6:c.2033-88T>G	NP_037514.2:n.2033-88T>G
NM_013382.7:c.2033-88T>G MANE Select	NP_037514.2:n.2033-88T>G