Canonical Allele Identifier: CA390514223

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745197A>T (hg19) ; chr14:g.77278854A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278854A>T , CM000676.2:g.77278854A>T	GRCh38
NC_000014.8:g.77745197A>T , CM000676.1:g.77745197A>T	GRCh37
NC_000014.7:g.76814950A>T	NCBI36
NG_008897.1:g.47029T>A , LRG_844:g.47029T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.832T>A
ENST00000556394.2:c.1448T>A	ENSP00000451967.2:p.Leu483Gln
ENST00000682128.1:c.208T>A	ENSP00000506976.1:n.208T>A
ENST00000682247.1:c.1896T>A	ENSP00000507213.1:p.Pro632=
ENST00000682395.1:n.2371T>A
ENST00000682459.1:n.1610T>A
ENST00000682467.1:c.1892-346T>A	ENSP00000508062.1:n.1892-346T>A
ENST00000682615.1:n.261T>A
ENST00000682795.1:c.2054T>A	ENSP00000507574.1:p.Leu685Gln
ENST00000682895.1:n.1623T>A
ENST00000682955.1:n.1481T>A
ENST00000683095.1:c.313T>A	ENSP00000508040.1:n.313T>A
ENST00000683188.1:c.2168T>A
ENST00000683380.1:n.1571T>A
ENST00000683828.1:c.1616T>A
ENST00000683907.1:c.172T>A	ENSP00000507754.1:p.Cys58Ser
ENST00000684172.1:c.283T>A	ENSP00000508391.1:n.283T>A
ENST00000684259.1:n.3674T>A
ENST00000684538.1:n.1286T>A
ENST00000684549.1:n.1458T>A
ENST00000261534.9:c.1907T>A MANE Select	ENSP00000261534.4:p.Leu636Gln
ENST00000261534.8:c.1907T>A	ENSP00000261534.4:p.Leu636Gln
ENST00000452340.7:n.2883T>A
ENST00000554767.5:n.2693T>A
ENST00000555134.1:n.832T>A
ENST00000555710.1:c.268T>A	ENSP00000451730.1:n.268T>A
ENST00000556171.1:c.499T>A
ENST00000556394.1:c.88-346T>A
ENST00000556446.1:n.208T>A
ENST00000602717.5:c.122T>A	ENSP00000487704.1:p.Leu41Gln
NM_013382.5:c.1907T>A , LRG_844t1:c.1907T>A	NP_037514.2:p.Leu636Gln
XM_011536675.1:c.2096T>A	XP_011534977.1:p.Leu699Gln
XM_011536676.1:c.1763T>A	XP_011534978.1:p.Leu588Gln
XM_011536677.1:c.1637T>A	XP_011534979.1:p.Leu546Gln
XM_011536679.1:c.1190T>A	XP_011534981.1:p.Leu397Gln
XR_943416.1:n.2160T>A
XM_011536675.2:c.2096T>A	XP_011534977.1:p.Leu699Gln
XM_011536676.2:c.1763T>A	XP_011534978.1:p.Leu588Gln
XM_011536677.3:c.1637T>A	XP_011534979.1:p.Leu546Gln
XR_001750279.1:n.2193T>A
XR_001750282.1:n.2846T>A
XR_943416.3:n.2158T>A
NM_013382.6:c.1907T>A	NP_037514.2:p.Leu636Gln
NM_013382.7:c.1907T>A MANE Select	NP_037514.2:p.Leu636Gln