Canonical Allele Identifier: CA487509453

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744847A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278504A>G , CM000676.2:g.77278504A>G	GRCh38
NC_000014.8:g.77744847A>G , CM000676.1:g.77744847A>G	GRCh37
NC_000014.7:g.76814600A>G	NCBI36
NG_008897.1:g.47379T>C , LRG_844:g.47379T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.962T>C
ENST00000556394.2:c.1578T>C	ENSP00000451967.2:p.Ile526=
ENST00000682247.1:c.2026T>C	ENSP00000507213.1:p.Ser676Pro
ENST00000682395.1:n.2501T>C
ENST00000682459.1:n.1740T>C
ENST00000682467.1:c.1896T>C	ENSP00000508062.1:p.Ile632=
ENST00000682795.1:c.2184T>C	ENSP00000507574.1:p.Ile728=
ENST00000682895.1:n.1753T>C
ENST00000682955.1:n.1611T>C
ENST00000683188.1:c.2298T>C
ENST00000683380.1:n.1701T>C
ENST00000683907.1:c.302T>C	ENSP00000507754.1:n.302T>C
ENST00000684259.1:n.3804T>C
ENST00000684538.1:n.1416T>C
ENST00000684549.1:n.1588T>C
ENST00000261534.9:c.2037T>C MANE Select	ENSP00000261534.4:p.Ile679=
ENST00000261534.8:c.2037T>C	ENSP00000261534.4:p.Ile679=
ENST00000452340.7:n.3013T>C
ENST00000554767.5:n.2823T>C
ENST00000555710.1:c.398T>C	ENSP00000451730.1:n.398T>C
ENST00000556394.1:c.92T>C
ENST00000556446.1:n.338T>C
ENST00000602717.5:c.252T>C	ENSP00000487704.1:p.Ile84=
NM_013382.5:c.2037T>C , LRG_844t1:c.2037T>C	NP_037514.2:p.Ile679=
XM_011536675.1:c.2226T>C	XP_011534977.1:p.Ile742=
XM_011536676.1:c.1893T>C	XP_011534978.1:p.Ile631=
XM_011536677.1:c.1767T>C	XP_011534979.1:p.Ile589=
XM_011536679.1:c.1320T>C	XP_011534981.1:p.Ile440=
XR_943416.1:n.2290T>C
XM_011536675.2:c.2226T>C	XP_011534977.1:p.Ile742=
XM_011536676.2:c.1893T>C	XP_011534978.1:p.Ile631=
XM_011536677.3:c.1767T>C	XP_011534979.1:p.Ile589=
XR_001750279.1:n.2323T>C
XR_001750282.1:n.2976T>C
XR_943416.3:n.2288T>C
NM_013382.6:c.2037T>C	NP_037514.2:p.Ile679=
NM_013382.7:c.2037T>C MANE Select	NP_037514.2:p.Ile679=