Canonical Allele Identifier: CA390513625

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278488-G-C
• MyVariant Identifiers: chr14:g.77744831G>C (hg19) ; chr14:g.77278488G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278488G>C , CM000676.2:g.77278488G>C	GRCh38
NC_000014.8:g.77744831G>C , CM000676.1:g.77744831G>C	GRCh37
NC_000014.7:g.76814584G>C	NCBI36
NG_008897.1:g.47395C>G , LRG_844:g.47395C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.978C>G
ENST00000556394.2:c.1594C>G	ENSP00000451967.2:p.Leu532Val
ENST00000682247.1:c.2042C>G	ENSP00000507213.1:p.Pro681Arg
ENST00000682395.1:n.2517C>G
ENST00000682459.1:n.1756C>G
ENST00000682467.1:c.1912C>G	ENSP00000508062.1:p.Leu638Val
ENST00000682795.1:c.2200C>G	ENSP00000507574.1:p.Leu734Val
ENST00000682895.1:n.1769C>G
ENST00000682955.1:n.1627C>G
ENST00000683188.1:c.2314C>G
ENST00000683380.1:n.1717C>G
ENST00000683907.1:c.318C>G	ENSP00000507754.1:n.318C>G
ENST00000684259.1:n.3820C>G
ENST00000684538.1:n.1432C>G
ENST00000684549.1:n.1604C>G
ENST00000261534.9:c.2053C>G MANE Select	ENSP00000261534.4:p.Leu685Val
ENST00000261534.8:c.2053C>G	ENSP00000261534.4:p.Leu685Val
ENST00000452340.7:n.3029C>G
ENST00000554767.5:n.2839C>G
ENST00000555710.1:c.414C>G	ENSP00000451730.1:n.414C>G
ENST00000556394.1:c.108C>G
ENST00000556446.1:n.354C>G
ENST00000602717.5:c.268C>G	ENSP00000487704.1:p.Leu90Val
NM_013382.5:c.2053C>G , LRG_844t1:c.2053C>G	NP_037514.2:p.Leu685Val
XM_011536675.1:c.2242C>G	XP_011534977.1:p.Leu748Val
XM_011536676.1:c.1909C>G	XP_011534978.1:p.Leu637Val
XM_011536677.1:c.1783C>G	XP_011534979.1:p.Leu595Val
XM_011536679.1:c.1336C>G	XP_011534981.1:p.Leu446Val
XR_943416.1:n.2306C>G
XM_011536675.2:c.2242C>G	XP_011534977.1:p.Leu748Val
XM_011536676.2:c.1909C>G	XP_011534978.1:p.Leu637Val
XM_011536677.3:c.1783C>G	XP_011534979.1:p.Leu595Val
XR_001750279.1:n.2339C>G
XR_001750282.1:n.2992C>G
XR_943416.3:n.2304C>G
NM_013382.6:c.2053C>G	NP_037514.2:p.Leu685Val
NM_013382.7:c.2053C>G MANE Select	NP_037514.2:p.Leu685Val