Canonical Allele Identifier: CA390513731

Gene: POMT2

Linked Data

• ClinVar Variation Id: 1422947
• ClinVar RCV Id: RCV001926363 ; RCV002558467
• dbSNP Id: rs2140161882
• gnomAD v4: 14-77278738-T-C
• MyVariant Identifiers: chr14:g.77745081T>C (hg19) ; chr14:g.77278738T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278738T>C , CM000676.2:g.77278738T>C	GRCh38
NC_000014.8:g.77745081T>C , CM000676.1:g.77745081T>C	GRCh37
NC_000014.7:g.76814834T>C	NCBI36
NG_008897.1:g.47145A>G , LRG_844:g.47145A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.948A>G
ENST00000556394.2:c.1564A>G	ENSP00000451967.2:p.Met522Val
ENST00000682128.1:c.324A>G	ENSP00000506976.1:n.324A>G
ENST00000682247.1:c.2012A>G	ENSP00000507213.1:p.His671Arg
ENST00000682395.1:n.2487A>G
ENST00000682459.1:n.1726A>G
ENST00000682467.1:c.1892-230A>G	ENSP00000508062.1:n.1892-230A>G
ENST00000682615.1:n.377A>G
ENST00000682795.1:c.2170A>G	ENSP00000507574.1:p.Met724Val
ENST00000682895.1:n.1739A>G
ENST00000682955.1:n.1597A>G
ENST00000683095.1:c.429A>G	ENSP00000508040.1:n.429A>G
ENST00000683188.1:c.2284A>G
ENST00000683380.1:n.1687A>G
ENST00000683907.1:c.288A>G	ENSP00000507754.1:n.288A>G
ENST00000684172.1:c.399A>G	ENSP00000508391.1:n.399A>G
ENST00000684259.1:n.3790A>G
ENST00000684538.1:n.1402A>G
ENST00000684549.1:n.1574A>G
ENST00000261534.9:c.2023A>G MANE Select	ENSP00000261534.4:p.Met675Val
ENST00000261534.8:c.2023A>G	ENSP00000261534.4:p.Met675Val
ENST00000452340.7:n.2999A>G
ENST00000554767.5:n.2809A>G
ENST00000555710.1:c.384A>G	ENSP00000451730.1:n.384A>G
ENST00000556394.1:c.88-230A>G
ENST00000556446.1:n.324A>G
ENST00000602717.5:c.238A>G	ENSP00000487704.1:p.Met80Val
NM_013382.5:c.2023A>G , LRG_844t1:c.2023A>G	NP_037514.2:p.Met675Val
XM_011536675.1:c.2212A>G	XP_011534977.1:p.Met738Val
XM_011536676.1:c.1879A>G	XP_011534978.1:p.Met627Val
XM_011536677.1:c.1753A>G	XP_011534979.1:p.Met585Val
XM_011536679.1:c.1306A>G	XP_011534981.1:p.Met436Val
XR_943416.1:n.2276A>G
XM_011536675.2:c.2212A>G	XP_011534977.1:p.Met738Val
XM_011536676.2:c.1879A>G	XP_011534978.1:p.Met627Val
XM_011536677.3:c.1753A>G	XP_011534979.1:p.Met585Val
XR_001750279.1:n.2309A>G
XR_001750282.1:n.2962A>G
XR_943416.3:n.2274A>G
NM_013382.6:c.2023A>G	NP_037514.2:p.Met675Val
NM_013382.7:c.2023A>G MANE Select	NP_037514.2:p.Met675Val