Canonical Allele Identifier: CA964937372

Gene: POMT2

Linked Data

• dbSNP Id: rs1891216832
• gnomAD v3: 14-77306043-G-GCAACCTGGAA
• gnomAD v4: 14-77306043-G-GCAACCTGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306044_77306045insAACCTGGAAC , CM000676.2:g.77306044_77306045insAACCTGGAAC	GRCh38
NC_000014.8:g.77772387_77772388insAACCTGGAAC , CM000676.1:g.77772387_77772388insAACCTGGAAC	GRCh37
NC_000014.7:g.76842140_76842141insAACCTGGAAC	NCBI36
NG_008897.1:g.19839_19840insTTCCAGGTTG , LRG_844:g.19839_19840insTTCCAGGTTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.460_461insTTCCAGGTTG
ENST00000556394.2:c.249-1244_249-1243insTTCCAGGTTG	ENSP00000451967.2:n.249-1244_249-1243insTTCCAGGTTG
ENST00000556880.6:n.462+202_462+203insTTCCAGGTTG
ENST00000682247.1:c.438+293_438+294insTTCCAGGTTG	ENSP00000507213.1:n.438+293_438+294insTTCCAGGTTG
ENST00000682382.1:c.386+293_386+294insTTCCAGGTTG
ENST00000682395.1:n.167+293_167+294insTTCCAGGTTG
ENST00000682459.1:n.102+358_102+359insTTCCAGGTTG
ENST00000682467.1:c.438+293_438+294insTTCCAGGTTG	ENSP00000508062.1:n.438+293_438+294insTTCCAGGTTG
ENST00000682795.1:c.438+293_438+294insTTCCAGGTTG	ENSP00000507574.1:n.438+293_438+294insTTCCAGGTTG
ENST00000682895.1:n.154+293_154+294insTTCCAGGTTG
ENST00000682955.1:n.102+358_102+359insTTCCAGGTTG
ENST00000683188.1:c.233+293_233+294insTTCCAGGTTG
ENST00000683380.1:n.102+358_102+359insTTCCAGGTTG
ENST00000683828.1:c.307+293_307+294insTTCCAGGTTG
ENST00000684102.1:n.477_478insTTCCAGGTTG
ENST00000684259.1:n.289+293_289+294insTTCCAGGTTG
ENST00000684479.1:n.106-184_106-183insTTCCAGGTTG
ENST00000684549.1:n.258+202_258+203insTTCCAGGTTG
ENST00000684600.1:c.252+293_252+294insTTCCAGGTTG
ENST00000684670.1:n.106-270_106-269insTTCCAGGTTG
ENST00000261534.9:c.438+293_438+294insTTCCAGGTTG MANE Select	ENSP00000261534.4:n.438+293_438+294insTTCCAGGTTG
ENST00000261534.8:c.438+293_438+294insTTCCAGGTTG	ENSP00000261534.4:n.438+293_438+294insTTCCAGGTTG
ENST00000452340.7:n.461+293_461+294insTTCCAGGTTG
ENST00000553863.5:n.102+358_102+359insTTCCAGGTTG
ENST00000554948.1:c.165+293_165+294insTTCCAGGTTG	ENSP00000452060.1:n.165+293_165+294insTTCCAGGTTG
ENST00000555675.5:n.154+293_154+294insTTCCAGGTTG
ENST00000555788.5:n.363+202_363+203insTTCCAGGTTG
ENST00000556326.5:c.*104+293_*104+294insTTCCAGGTTG	ENSP00000450630.1:n.*104+293_*104+294insTTCCAGGTTG
ENST00000556880.5:n.462+202_462+203insTTCCAGGTTG
ENST00000557525.1:n.528+293_528+294insTTCCAGGTTG
NM_013382.5:c.438+293_438+294insTTCCAGGTTG , LRG_844t1:c.438+293_438+294insTTCCAGGTTG	NP_037514.2:n.438+293_438+294insTTCCAGGTTG
XM_011536675.1:c.438+293_438+294insTTCCAGGTTG	XP_011534977.1:n.438+293_438+294insTTCCAGGTTG
XM_011536676.1:c.105+293_105+294insTTCCAGGTTG	XP_011534978.1:n.105+293_105+294insTTCCAGGTTG
XM_011536677.1:c.438+293_438+294insTTCCAGGTTG	XP_011534979.1:n.438+293_438+294insTTCCAGGTTG
XM_011536678.1:c.438+293_438+294insTTCCAGGTTG	XP_011534980.1:n.438+293_438+294insTTCCAGGTTG
XM_011536679.1:c.-200+202_-200+203insTTCCAGGTTG	XP_011534981.1:n.-200+202_-200+203insTTCCAGGTTG
XM_011536680.1:c.438+293_438+294insTTCCAGGTTG	XP_011534982.1:n.438+293_438+294insTTCCAGGTTG
XR_943416.1:n.641+293_641+294insTTCCAGGTTG
XM_011536675.2:c.438+293_438+294insTTCCAGGTTG	XP_011534977.1:n.438+293_438+294insTTCCAGGTTG
XM_011536676.2:c.105+293_105+294insTTCCAGGTTG	XP_011534978.1:n.105+293_105+294insTTCCAGGTTG
XM_011536677.3:c.438+293_438+294insTTCCAGGTTG	XP_011534979.1:n.438+293_438+294insTTCCAGGTTG
XR_001750279.1:n.638+293_638+294insTTCCAGGTTG
XR_001750282.1:n.642+293_642+294insTTCCAGGTTG
XR_943416.3:n.639+293_639+294insTTCCAGGTTG
NM_013382.6:c.438+293_438+294insTTCCAGGTTG	NP_037514.2:n.438+293_438+294insTTCCAGGTTG
NM_013382.7:c.438+293_438+294insTTCCAGGTTG MANE Select	NP_037514.2:n.438+293_438+294insTTCCAGGTTG