Canonical Allele Identifier: CA487324820

Gene: POMT2

Linked Data

• dbSNP Id: rs1383641719
• gnomAD v3: 14-77298690-T-C
• gnomAD v4: 14-77298690-T-C
• MyVariant Identifiers: chr14:g.77765033T>C (hg19) ; chr14:g.77298690T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77298690T>C , CM000676.2:g.77298690T>C	GRCh38
NC_000014.8:g.77765033T>C , CM000676.1:g.77765033T>C	GRCh37
NC_000014.7:g.76834786T>C	NCBI36
NG_008897.1:g.27193A>G , LRG_844:g.27193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000556394.2:c.546A>G	ENSP00000451967.2:p.Glu182=
ENST00000557289.2:c.303A>G
ENST00000682247.1:c.1005A>G	ENSP00000507213.1:p.Glu335=
ENST00000682382.1:c.577A>G
ENST00000682395.1:n.734A>G
ENST00000682459.1:n.669A>G
ENST00000682467.1:c.1005A>G	ENSP00000508062.1:p.Glu335=
ENST00000682795.1:c.1005A>G	ENSP00000507574.1:p.Glu335=
ENST00000682895.1:n.721A>G
ENST00000682955.1:n.293A>G
ENST00000683188.1:c.531A>G
ENST00000683300.1:c.110-2417A>G	ENSP00000507630.1:n.110-2417A>G
ENST00000683328.1:c.109+6002A>G	ENSP00000508096.1:n.109+6002A>G
ENST00000683380.1:n.669A>G
ENST00000683551.1:c.191A>G
ENST00000683828.1:c.714A>G
ENST00000684259.1:n.856A>G
ENST00000684549.1:n.556A>G
ENST00000684554.1:c.242A>G
ENST00000261534.9:c.1005A>G MANE Select	ENSP00000261534.4:p.Glu335=
ENST00000261534.8:c.1005A>G	ENSP00000261534.4:p.Glu335=
ENST00000452340.7:n.1028A>G
ENST00000554767.5:n.1791A>G
ENST00000557289.1:c.244A>G	ENSP00000451115.1:n.244A>G
NM_013382.5:c.1005A>G , LRG_844t1:c.1005A>G	NP_037514.2:p.Glu335=
XM_011536675.1:c.1005A>G	XP_011534977.1:p.Glu335=
XM_011536676.1:c.672A>G	XP_011534978.1:p.Glu224=
XM_011536677.1:c.548-2417A>G	XP_011534979.1:n.548-2417A>G
XM_011536678.1:c.1005A>G	XP_011534980.1:p.Glu335=
XM_011536679.1:c.99A>G	XP_011534981.1:p.Glu33=
XM_011536680.1:c.1005A>G	XP_011534982.1:p.Glu335=
XR_943416.1:n.1208A>G
XM_011536675.2:c.1005A>G	XP_011534977.1:p.Glu335=
XM_011536676.2:c.672A>G	XP_011534978.1:p.Glu224=
XM_011536677.3:c.548-2417A>G	XP_011534979.1:n.548-2417A>G
XR_001750279.1:n.1205A>G
XR_001750282.1:n.1209A>G
XR_943416.3:n.1206A>G
NM_013382.6:c.1005A>G	NP_037514.2:p.Glu335=
NM_013382.7:c.1005A>G MANE Select	NP_037514.2:p.Glu335=