Canonical Allele Identifier: CA263841579

Gene: POMT2

Linked Data

• dbSNP Id: rs919883819
• gnomAD v3: 14-77306218-T-C
• gnomAD v4: 14-77306218-T-C
• MyVariant Identifiers: chr14:g.77772561T>C (hg19) ; chr14:g.77306218T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306218T>C , CM000676.2:g.77306218T>C	GRCh38
NC_000014.8:g.77772561T>C , CM000676.1:g.77772561T>C	GRCh37
NC_000014.7:g.76842314T>C	NCBI36
NG_008897.1:g.19665A>G , LRG_844:g.19665A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.286A>G
ENST00000556394.2:c.249-1418A>G	ENSP00000451967.2:n.249-1418A>G
ENST00000556880.6:n.462+28A>G
ENST00000682247.1:c.438+119A>G	ENSP00000507213.1:n.438+119A>G
ENST00000682382.1:c.386+119A>G
ENST00000682395.1:n.167+119A>G
ENST00000682459.1:n.102+184A>G
ENST00000682467.1:c.438+119A>G	ENSP00000508062.1:n.438+119A>G
ENST00000682795.1:c.438+119A>G	ENSP00000507574.1:n.438+119A>G
ENST00000682895.1:n.154+119A>G
ENST00000682955.1:n.102+184A>G
ENST00000683188.1:c.233+119A>G
ENST00000683380.1:n.102+184A>G
ENST00000683828.1:c.307+119A>G
ENST00000684102.1:n.303A>G
ENST00000684259.1:n.289+119A>G
ENST00000684479.1:n.105+119A>G
ENST00000684549.1:n.258+28A>G
ENST00000684600.1:c.252+119A>G
ENST00000684670.1:n.105+119A>G
ENST00000261534.9:c.438+119A>G MANE Select	ENSP00000261534.4:n.438+119A>G
ENST00000261534.8:c.438+119A>G	ENSP00000261534.4:n.438+119A>G
ENST00000452340.7:n.461+119A>G
ENST00000553863.5:n.102+184A>G
ENST00000554948.1:c.165+119A>G	ENSP00000452060.1:n.165+119A>G
ENST00000555675.5:n.154+119A>G
ENST00000555788.5:n.363+28A>G
ENST00000556326.5:c.*104+119A>G	ENSP00000450630.1:n.*104+119A>G
ENST00000556880.5:n.462+28A>G
ENST00000557525.1:n.528+119A>G
NM_013382.5:c.438+119A>G , LRG_844t1:c.438+119A>G	NP_037514.2:n.438+119A>G
XM_011536675.1:c.438+119A>G	XP_011534977.1:n.438+119A>G
XM_011536676.1:c.105+119A>G	XP_011534978.1:n.105+119A>G
XM_011536677.1:c.438+119A>G	XP_011534979.1:n.438+119A>G
XM_011536678.1:c.438+119A>G	XP_011534980.1:n.438+119A>G
XM_011536679.1:c.-200+28A>G	XP_011534981.1:n.-200+28A>G
XM_011536680.1:c.438+119A>G	XP_011534982.1:n.438+119A>G
XR_943416.1:n.641+119A>G
XM_011536675.2:c.438+119A>G	XP_011534977.1:n.438+119A>G
XM_011536676.2:c.105+119A>G	XP_011534978.1:n.105+119A>G
XM_011536677.3:c.438+119A>G	XP_011534979.1:n.438+119A>G
XR_001750279.1:n.638+119A>G
XR_001750282.1:n.642+119A>G
XR_943416.3:n.639+119A>G
NM_013382.6:c.438+119A>G	NP_037514.2:n.438+119A>G
NM_013382.7:c.438+119A>G MANE Select	NP_037514.2:n.438+119A>G