Canonical Allele Identifier: CA390513995

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745144A>C (hg19) ; chr14:g.77278801A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278801A>C , CM000676.2:g.77278801A>C	GRCh38
NC_000014.8:g.77745144A>C , CM000676.1:g.77745144A>C	GRCh37
NC_000014.7:g.76814897A>C	NCBI36
NG_008897.1:g.47082T>G , LRG_844:g.47082T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.885T>G
ENST00000556394.2:c.1501T>G	ENSP00000451967.2:p.Phe501Val
ENST00000682128.1:c.261T>G	ENSP00000506976.1:n.261T>G
ENST00000682247.1:c.1949T>G	ENSP00000507213.1:p.Val650Gly
ENST00000682395.1:n.2424T>G
ENST00000682459.1:n.1663T>G
ENST00000682467.1:c.1892-293T>G	ENSP00000508062.1:n.1892-293T>G
ENST00000682615.1:n.314T>G
ENST00000682795.1:c.2107T>G	ENSP00000507574.1:p.Phe703Val
ENST00000682895.1:n.1676T>G
ENST00000682955.1:n.1534T>G
ENST00000683095.1:c.366T>G	ENSP00000508040.1:n.366T>G
ENST00000683188.1:c.2221T>G
ENST00000683380.1:n.1624T>G
ENST00000683828.1:c.1669T>G
ENST00000683907.1:c.225T>G	ENSP00000507754.1:p.Arg75=
ENST00000684172.1:c.336T>G	ENSP00000508391.1:n.336T>G
ENST00000684259.1:n.3727T>G
ENST00000684538.1:n.1339T>G
ENST00000684549.1:n.1511T>G
ENST00000261534.9:c.1960T>G MANE Select	ENSP00000261534.4:p.Phe654Val
ENST00000261534.8:c.1960T>G	ENSP00000261534.4:p.Phe654Val
ENST00000452340.7:n.2936T>G
ENST00000554767.5:n.2746T>G
ENST00000555710.1:c.321T>G	ENSP00000451730.1:n.321T>G
ENST00000556171.1:c.552T>G
ENST00000556394.1:c.88-293T>G
ENST00000556446.1:n.261T>G
ENST00000602717.5:c.175T>G	ENSP00000487704.1:p.Phe59Val
NM_013382.5:c.1960T>G , LRG_844t1:c.1960T>G	NP_037514.2:p.Phe654Val
XM_011536675.1:c.2149T>G	XP_011534977.1:p.Phe717Val
XM_011536676.1:c.1816T>G	XP_011534978.1:p.Phe606Val
XM_011536677.1:c.1690T>G	XP_011534979.1:p.Phe564Val
XM_011536679.1:c.1243T>G	XP_011534981.1:p.Phe415Val
XR_943416.1:n.2213T>G
XM_011536675.2:c.2149T>G	XP_011534977.1:p.Phe717Val
XM_011536676.2:c.1816T>G	XP_011534978.1:p.Phe606Val
XM_011536677.3:c.1690T>G	XP_011534979.1:p.Phe564Val
XR_001750279.1:n.2246T>G
XR_001750282.1:n.2899T>G
XR_943416.3:n.2211T>G
NM_013382.6:c.1960T>G	NP_037514.2:p.Phe654Val
NM_013382.7:c.1960T>G MANE Select	NP_037514.2:p.Phe654Val