Canonical Allele Identifier: CA390514220

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.832T>G
ENST00000556394.2:c.1448T>G	ENSP00000451967.2:p.Leu483Arg
ENST00000682128.1:c.208T>G	ENSP00000506976.1:n.208T>G
ENST00000682247.1:c.1896T>G	ENSP00000507213.1:p.Pro632=
ENST00000682395.1:n.2371T>G
ENST00000682459.1:n.1610T>G
ENST00000682467.1:c.1892-346T>G	ENSP00000508062.1:n.1892-346T>G
ENST00000682615.1:n.261T>G
ENST00000682795.1:c.2054T>G	ENSP00000507574.1:p.Leu685Arg
ENST00000682895.1:n.1623T>G
ENST00000682955.1:n.1481T>G
ENST00000683095.1:c.313T>G	ENSP00000508040.1:n.313T>G
ENST00000683188.1:c.2168T>G
ENST00000683380.1:n.1571T>G
ENST00000683828.1:c.1616T>G
ENST00000683907.1:c.172T>G	ENSP00000507754.1:p.Cys58Gly
ENST00000684172.1:c.283T>G	ENSP00000508391.1:n.283T>G
ENST00000684259.1:n.3674T>G
ENST00000684538.1:n.1286T>G
ENST00000684549.1:n.1458T>G
ENST00000261534.9:c.1907T>G MANE Select	ENSP00000261534.4:p.Leu636Arg
ENST00000261534.8:c.1907T>G	ENSP00000261534.4:p.Leu636Arg
ENST00000452340.7:n.2883T>G
ENST00000554767.5:n.2693T>G
ENST00000555134.1:n.832T>G
ENST00000555710.1:c.268T>G	ENSP00000451730.1:n.268T>G
ENST00000556171.1:c.499T>G
ENST00000556394.1:c.88-346T>G
ENST00000556446.1:n.208T>G
ENST00000602717.5:c.122T>G	ENSP00000487704.1:p.Leu41Arg
NM_013382.5:c.1907T>G , LRG_844t1:c.1907T>G	NP_037514.2:p.Leu636Arg
XM_011536675.1:c.2096T>G	XP_011534977.1:p.Leu699Arg
XM_011536676.1:c.1763T>G	XP_011534978.1:p.Leu588Arg
XM_011536677.1:c.1637T>G	XP_011534979.1:p.Leu546Arg
XM_011536679.1:c.1190T>G	XP_011534981.1:p.Leu397Arg
XR_943416.1:n.2160T>G
XM_011536675.2:c.2096T>G	XP_011534977.1:p.Leu699Arg
XM_011536676.2:c.1763T>G	XP_011534978.1:p.Leu588Arg
XM_011536677.3:c.1637T>G	XP_011534979.1:p.Leu546Arg
XR_001750279.1:n.2193T>G
XR_001750282.1:n.2846T>G
XR_943416.3:n.2158T>G
NM_013382.6:c.1907T>G	NP_037514.2:p.Leu636Arg
NM_013382.7:c.1907T>G MANE Select	NP_037514.2:p.Leu636Arg