Canonical Allele Identifier: CA263837677

Gene: POMT2

Linked Data

• ClinVar Variation Id: 1213044
• ClinVar RCV Id: RCV001589632
• dbSNP Id: rs117741019
• gnomAD v2: 14-77767736-G-A
• gnomAD v3: 14-77301393-G-A
• gnomAD v4: 14-77301393-G-A
• MyVariant Identifiers: chr14:g.77767736G>A (hg19) ; chr14:g.77301393G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301393G>A , CM000676.2:g.77301393G>A	GRCh38
NC_000014.8:g.77767736G>A , CM000676.1:g.77767736G>A	GRCh37
NC_000014.7:g.76837489G>A	NCBI36
NG_008897.1:g.24490C>T , LRG_844:g.24490C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.110-144C>T	ENSP00000508202.1:n.110-144C>T
ENST00000556394.2:c.358-1832C>T	ENSP00000451967.2:n.358-1832C>T
ENST00000556880.6:n.681-144C>T
ENST00000682247.1:c.657-144C>T	ENSP00000507213.1:n.657-144C>T
ENST00000682382.1:c.496-2622C>T
ENST00000682395.1:n.386-144C>T
ENST00000682459.1:n.321-144C>T
ENST00000682467.1:c.657-144C>T	ENSP00000508062.1:n.657-144C>T
ENST00000682795.1:c.657-144C>T	ENSP00000507574.1:n.657-144C>T
ENST00000682895.1:n.373-144C>T
ENST00000682955.1:n.212-2622C>T
ENST00000683188.1:c.343-1832C>T
ENST00000683300.1:c.109+3299C>T	ENSP00000507630.1:n.109+3299C>T
ENST00000683328.1:c.109+3299C>T	ENSP00000508096.1:n.109+3299C>T
ENST00000683380.1:n.321-144C>T
ENST00000683551.1:c.109+1442C>T
ENST00000683828.1:c.525+1442C>T
ENST00000684259.1:n.508-144C>T
ENST00000684549.1:n.368-1832C>T
ENST00000261534.9:c.657-144C>T MANE Select	ENSP00000261534.4:n.657-144C>T
ENST00000261534.8:c.657-144C>T	ENSP00000261534.4:n.657-144C>T
ENST00000452340.7:n.680-144C>T
ENST00000553863.5:n.321-144C>T
ENST00000554948.1:c.384-144C>T	ENSP00000452060.1:n.384-144C>T
ENST00000555675.5:n.373-144C>T
ENST00000556326.5:c.*323-144C>T	ENSP00000450630.1:n.*323-144C>T
ENST00000557289.1:c.56-1832C>T	ENSP00000451115.1:n.56-1832C>T
NM_013382.5:c.657-144C>T , LRG_844t1:c.657-144C>T	NP_037514.2:n.657-144C>T
XM_011536675.1:c.657-144C>T	XP_011534977.1:n.657-144C>T
XM_011536676.1:c.324-144C>T	XP_011534978.1:n.324-144C>T
XM_011536677.1:c.547+3299C>T	XP_011534979.1:n.547+3299C>T
XM_011536678.1:c.657-144C>T	XP_011534980.1:n.657-144C>T
XM_011536679.1:c.-90-1832C>T	XP_011534981.1:n.-90-1832C>T
XM_011536680.1:c.657-144C>T	XP_011534982.1:n.657-144C>T
XR_943416.1:n.860-144C>T
XM_011536675.2:c.657-144C>T	XP_011534977.1:n.657-144C>T
XM_011536676.2:c.324-144C>T	XP_011534978.1:n.324-144C>T
XM_011536677.3:c.547+3299C>T	XP_011534979.1:n.547+3299C>T
XR_001750279.1:n.857-144C>T
XR_001750282.1:n.861-144C>T
XR_943416.3:n.858-144C>T
NM_013382.6:c.657-144C>T	NP_037514.2:n.657-144C>T
NM_013382.7:c.657-144C>T MANE Select	NP_037514.2:n.657-144C>T