Canonical Allele Identifier: CA390520983

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306368-T-C
• COSMIC: COSM3744455
• MyVariant Identifiers: chr14:g.77772711T>C (hg19) ; chr14:g.77306368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306368T>C , CM000676.2:g.77306368T>C	GRCh38
NC_000014.8:g.77772711T>C , CM000676.1:g.77772711T>C	GRCh37
NC_000014.7:g.76842464T>C	NCBI36
NG_008897.1:g.19515A>G , LRG_844:g.19515A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.136A>G
ENST00000556394.2:c.249-1568A>G	ENSP00000451967.2:n.249-1568A>G
ENST00000556880.6:n.340A>G
ENST00000682247.1:c.407A>G	ENSP00000507213.1:p.Tyr136Cys
ENST00000682382.1:c.355A>G
ENST00000682395.1:n.136A>G
ENST00000682459.1:n.102+34A>G
ENST00000682467.1:c.407A>G	ENSP00000508062.1:p.Tyr136Cys
ENST00000682795.1:c.407A>G	ENSP00000507574.1:p.Tyr136Cys
ENST00000682895.1:n.123A>G
ENST00000682955.1:n.102+34A>G
ENST00000683188.1:c.202A>G
ENST00000683380.1:n.102+34A>G
ENST00000683828.1:c.276A>G
ENST00000684066.1:n.102A>G
ENST00000684102.1:n.153A>G
ENST00000684259.1:n.258A>G
ENST00000684479.1:n.74A>G
ENST00000684549.1:n.136A>G
ENST00000684600.1:c.221A>G
ENST00000684670.1:n.74A>G
ENST00000684746.1:n.104A>G
ENST00000261534.9:c.407A>G MANE Select	ENSP00000261534.4:p.Tyr136Cys
ENST00000261534.8:c.407A>G	ENSP00000261534.4:p.Tyr136Cys
ENST00000452340.7:n.430A>G
ENST00000553863.5:n.102+34A>G
ENST00000554948.1:c.134A>G	ENSP00000452060.1:p.Tyr45Cys
ENST00000555675.5:n.123A>G
ENST00000555788.5:n.241A>G
ENST00000556326.5:c.*73A>G	ENSP00000450630.1:n.*73A>G
ENST00000556880.5:n.340A>G
ENST00000557525.1:n.497A>G
NM_013382.5:c.407A>G , LRG_844t1:c.407A>G	NP_037514.2:p.Tyr136Cys
XM_011536675.1:c.407A>G	XP_011534977.1:p.Tyr136Cys
XM_011536676.1:c.74A>G	XP_011534978.1:p.Tyr25Cys
XM_011536677.1:c.407A>G	XP_011534979.1:p.Tyr136Cys
XM_011536678.1:c.407A>G	XP_011534980.1:p.Tyr136Cys
XM_011536680.1:c.407A>G	XP_011534982.1:p.Tyr136Cys
XR_943416.1:n.610A>G
XM_011536675.2:c.407A>G	XP_011534977.1:p.Tyr136Cys
XM_011536676.2:c.74A>G	XP_011534978.1:p.Tyr25Cys
XM_011536677.3:c.407A>G	XP_011534979.1:p.Tyr136Cys
XR_001750279.1:n.607A>G
XR_001750282.1:n.611A>G
XR_943416.3:n.608A>G
NM_013382.6:c.407A>G	NP_037514.2:p.Tyr136Cys
NM_013382.7:c.407A>G MANE Select	NP_037514.2:p.Tyr136Cys