Canonical Allele Identifier: CA487509419

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744831G>A (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.978C>T
ENST00000556394.2:c.1594C>T	ENSP00000451967.2:p.Leu532=
ENST00000682247.1:c.2042C>T	ENSP00000507213.1:p.Pro681Leu
ENST00000682395.1:n.2517C>T
ENST00000682459.1:n.1756C>T
ENST00000682467.1:c.1912C>T	ENSP00000508062.1:p.Leu638=
ENST00000682795.1:c.2200C>T	ENSP00000507574.1:p.Leu734=
ENST00000682895.1:n.1769C>T
ENST00000682955.1:n.1627C>T
ENST00000683188.1:c.2314C>T
ENST00000683380.1:n.1717C>T
ENST00000683907.1:c.318C>T	ENSP00000507754.1:n.318C>T
ENST00000684259.1:n.3820C>T
ENST00000684538.1:n.1432C>T
ENST00000684549.1:n.1604C>T
ENST00000261534.9:c.2053C>T MANE Select	ENSP00000261534.4:p.Leu685=
ENST00000261534.8:c.2053C>T	ENSP00000261534.4:p.Leu685=
ENST00000452340.7:n.3029C>T
ENST00000554767.5:n.2839C>T
ENST00000555710.1:c.414C>T	ENSP00000451730.1:n.414C>T
ENST00000556394.1:c.108C>T
ENST00000556446.1:n.354C>T
ENST00000602717.5:c.268C>T	ENSP00000487704.1:p.Leu90=
NM_013382.5:c.2053C>T , LRG_844t1:c.2053C>T	NP_037514.2:p.Leu685=
XM_011536675.1:c.2242C>T	XP_011534977.1:p.Leu748=
XM_011536676.1:c.1909C>T	XP_011534978.1:p.Leu637=
XM_011536677.1:c.1783C>T	XP_011534979.1:p.Leu595=
XM_011536679.1:c.1336C>T	XP_011534981.1:p.Leu446=
XR_943416.1:n.2306C>T
XM_011536675.2:c.2242C>T	XP_011534977.1:p.Leu748=
XM_011536676.2:c.1909C>T	XP_011534978.1:p.Leu637=
XM_011536677.3:c.1783C>T	XP_011534979.1:p.Leu595=
XR_001750279.1:n.2339C>T
XR_001750282.1:n.2992C>T
XR_943416.3:n.2304C>T
NM_013382.6:c.2053C>T	NP_037514.2:p.Leu685=
NM_013382.7:c.2053C>T MANE Select	NP_037514.2:p.Leu685=