Canonical Allele Identifier: CA390520986

Gene: POMT2

Linked Data

• ClinVar Variation Id: 1058360
• ClinVar RCV Id: RCV001367491 ; RCV003120583
• dbSNP Id: rs1891230114
• gnomAD v4: 14-77306369-A-G
• MyVariant Identifiers: chr14:g.77772712A>G (hg19) ; chr14:g.77306369A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306369A>G , CM000676.2:g.77306369A>G	GRCh38
NC_000014.8:g.77772712A>G , CM000676.1:g.77772712A>G	GRCh37
NC_000014.7:g.76842465A>G	NCBI36
NG_008897.1:g.19514T>C , LRG_844:g.19514T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.135T>C
ENST00000556394.2:c.249-1569T>C	ENSP00000451967.2:n.249-1569T>C
ENST00000556880.6:n.339T>C
ENST00000682247.1:c.406T>C	ENSP00000507213.1:p.Tyr136His
ENST00000682382.1:c.354T>C
ENST00000682395.1:n.135T>C
ENST00000682459.1:n.102+33T>C
ENST00000682467.1:c.406T>C	ENSP00000508062.1:p.Tyr136His
ENST00000682795.1:c.406T>C	ENSP00000507574.1:p.Tyr136His
ENST00000682895.1:n.122T>C
ENST00000682955.1:n.102+33T>C
ENST00000683188.1:c.201T>C
ENST00000683380.1:n.102+33T>C
ENST00000683828.1:c.275T>C
ENST00000684066.1:n.101T>C
ENST00000684102.1:n.152T>C
ENST00000684259.1:n.257T>C
ENST00000684479.1:n.73T>C
ENST00000684549.1:n.135T>C
ENST00000684600.1:c.220T>C
ENST00000684670.1:n.73T>C
ENST00000684746.1:n.103T>C
ENST00000261534.9:c.406T>C MANE Select	ENSP00000261534.4:p.Tyr136His
ENST00000261534.8:c.406T>C	ENSP00000261534.4:p.Tyr136His
ENST00000452340.7:n.429T>C
ENST00000553863.5:n.102+33T>C
ENST00000554948.1:c.133T>C	ENSP00000452060.1:p.Tyr45His
ENST00000555675.5:n.122T>C
ENST00000555788.5:n.240T>C
ENST00000556326.5:c.*72T>C	ENSP00000450630.1:n.*72T>C
ENST00000556880.5:n.339T>C
ENST00000557525.1:n.496T>C
NM_013382.5:c.406T>C , LRG_844t1:c.406T>C	NP_037514.2:p.Tyr136His
XM_011536675.1:c.406T>C	XP_011534977.1:p.Tyr136His
XM_011536676.1:c.73T>C	XP_011534978.1:p.Tyr25His
XM_011536677.1:c.406T>C	XP_011534979.1:p.Tyr136His
XM_011536678.1:c.406T>C	XP_011534980.1:p.Tyr136His
XM_011536680.1:c.406T>C	XP_011534982.1:p.Tyr136His
XR_943416.1:n.609T>C
XM_011536675.2:c.406T>C	XP_011534977.1:p.Tyr136His
XM_011536676.2:c.73T>C	XP_011534978.1:p.Tyr25His
XM_011536677.3:c.406T>C	XP_011534979.1:p.Tyr136His
XR_001750279.1:n.606T>C
XR_001750282.1:n.610T>C
XR_943416.3:n.607T>C
NM_013382.6:c.406T>C	NP_037514.2:p.Tyr136His
NM_013382.7:c.406T>C MANE Select	NP_037514.2:p.Tyr136His