Canonical Allele Identifier: CA964937375

Gene: POMT2

Linked Data

• dbSNP Id: rs1891216952
• gnomAD v3: 14-77306046-GTTC-G
• gnomAD v4: 14-77306046-GTTC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306048_77306050del , CM000676.2:g.77306048_77306050del	GRCh38
NC_000014.8:g.77772391_77772393del , CM000676.1:g.77772391_77772393del	GRCh37
NC_000014.7:g.76842144_76842146del	NCBI36
NG_008897.1:g.19834_19836del , LRG_844:g.19834_19836del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.455_457del
ENST00000556394.2:c.249-1249_249-1247del	ENSP00000451967.2:n.249-1249_249-1247del
ENST00000556880.6:n.462+197_462+199del
ENST00000682247.1:c.438+288_438+290del	ENSP00000507213.1:n.438+288_438+290del
ENST00000682382.1:c.386+288_386+290del
ENST00000682395.1:n.167+288_167+290del
ENST00000682459.1:n.102+353_102+355del
ENST00000682467.1:c.438+288_438+290del	ENSP00000508062.1:n.438+288_438+290del
ENST00000682795.1:c.438+288_438+290del	ENSP00000507574.1:n.438+288_438+290del
ENST00000682895.1:n.154+288_154+290del
ENST00000682955.1:n.102+353_102+355del
ENST00000683188.1:c.233+288_233+290del
ENST00000683380.1:n.102+353_102+355del
ENST00000683828.1:c.307+288_307+290del
ENST00000684102.1:n.472_474del
ENST00000684259.1:n.289+288_289+290del
ENST00000684479.1:n.106-189_106-187del
ENST00000684549.1:n.258+197_258+199del
ENST00000684600.1:c.252+288_252+290del
ENST00000684670.1:n.106-275_106-273del
ENST00000261534.9:c.438+288_438+290del MANE Select	ENSP00000261534.4:n.438+288_438+290del
ENST00000261534.8:c.438+288_438+290del	ENSP00000261534.4:n.438+288_438+290del
ENST00000452340.7:n.461+288_461+290del
ENST00000553863.5:n.102+353_102+355del
ENST00000554948.1:c.165+288_165+290del	ENSP00000452060.1:n.165+288_165+290del
ENST00000555675.5:n.154+288_154+290del
ENST00000555788.5:n.363+197_363+199del
ENST00000556326.5:c.*104+288_*104+290del	ENSP00000450630.1:n.*104+288_*104+290del
ENST00000556880.5:n.462+197_462+199del
ENST00000557525.1:n.528+288_528+290del
NM_013382.5:c.438+288_438+290del , LRG_844t1:c.438+288_438+290del	NP_037514.2:n.438+288_438+290del
XM_011536675.1:c.438+288_438+290del	XP_011534977.1:n.438+288_438+290del
XM_011536676.1:c.105+288_105+290del	XP_011534978.1:n.105+288_105+290del
XM_011536677.1:c.438+288_438+290del	XP_011534979.1:n.438+288_438+290del
XM_011536678.1:c.438+288_438+290del	XP_011534980.1:n.438+288_438+290del
XM_011536679.1:c.-200+197_-200+199del	XP_011534981.1:n.-200+197_-200+199del
XM_011536680.1:c.438+288_438+290del	XP_011534982.1:n.438+288_438+290del
XR_943416.1:n.641+288_641+290del
XM_011536675.2:c.438+288_438+290del	XP_011534977.1:n.438+288_438+290del
XM_011536676.2:c.105+288_105+290del	XP_011534978.1:n.105+288_105+290del
XM_011536677.3:c.438+288_438+290del	XP_011534979.1:n.438+288_438+290del
XR_001750279.1:n.638+288_638+290del
XR_001750282.1:n.642+288_642+290del
XR_943416.3:n.639+288_639+290del
NM_013382.6:c.438+288_438+290del	NP_037514.2:n.438+288_438+290del
NM_013382.7:c.438+288_438+290del MANE Select	NP_037514.2:n.438+288_438+290del