Canonical Allele Identifier: CA390514138

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745176A>T (hg19) ; chr14:g.77278833A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278833A>T , CM000676.2:g.77278833A>T	GRCh38
NC_000014.8:g.77745176A>T , CM000676.1:g.77745176A>T	GRCh37
NC_000014.7:g.76814929A>T	NCBI36
NG_008897.1:g.47050T>A , LRG_844:g.47050T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.853T>A
ENST00000556394.2:c.1469T>A	ENSP00000451967.2:p.Val490Asp
ENST00000682128.1:c.229T>A	ENSP00000506976.1:n.229T>A
ENST00000682247.1:c.1917T>A	ENSP00000507213.1:p.Gly639=
ENST00000682395.1:n.2392T>A
ENST00000682459.1:n.1631T>A
ENST00000682467.1:c.1892-325T>A	ENSP00000508062.1:n.1892-325T>A
ENST00000682615.1:n.282T>A
ENST00000682795.1:c.2075T>A	ENSP00000507574.1:p.Val692Asp
ENST00000682895.1:n.1644T>A
ENST00000682955.1:n.1502T>A
ENST00000683095.1:c.334T>A	ENSP00000508040.1:n.334T>A
ENST00000683188.1:c.2189T>A
ENST00000683380.1:n.1592T>A
ENST00000683828.1:c.1637T>A
ENST00000683907.1:c.193T>A	ENSP00000507754.1:p.Ser65Thr
ENST00000684172.1:c.304T>A	ENSP00000508391.1:n.304T>A
ENST00000684259.1:n.3695T>A
ENST00000684538.1:n.1307T>A
ENST00000684549.1:n.1479T>A
ENST00000261534.9:c.1928T>A MANE Select	ENSP00000261534.4:p.Val643Asp
ENST00000261534.8:c.1928T>A	ENSP00000261534.4:p.Val643Asp
ENST00000452340.7:n.2904T>A
ENST00000554767.5:n.2714T>A
ENST00000555134.1:n.853T>A
ENST00000555710.1:c.289T>A	ENSP00000451730.1:n.289T>A
ENST00000556171.1:c.520T>A
ENST00000556394.1:c.88-325T>A
ENST00000556446.1:n.229T>A
ENST00000602717.5:c.143T>A	ENSP00000487704.1:p.Val48Asp
NM_013382.5:c.1928T>A , LRG_844t1:c.1928T>A	NP_037514.2:p.Val643Asp
XM_011536675.1:c.2117T>A	XP_011534977.1:p.Val706Asp
XM_011536676.1:c.1784T>A	XP_011534978.1:p.Val595Asp
XM_011536677.1:c.1658T>A	XP_011534979.1:p.Val553Asp
XM_011536679.1:c.1211T>A	XP_011534981.1:p.Val404Asp
XR_943416.1:n.2181T>A
XM_011536675.2:c.2117T>A	XP_011534977.1:p.Val706Asp
XM_011536676.2:c.1784T>A	XP_011534978.1:p.Val595Asp
XM_011536677.3:c.1658T>A	XP_011534979.1:p.Val553Asp
XR_001750279.1:n.2214T>A
XR_001750282.1:n.2867T>A
XR_943416.3:n.2179T>A
NM_013382.6:c.1928T>A	NP_037514.2:p.Val643Asp
NM_013382.7:c.1928T>A MANE Select	NP_037514.2:p.Val643Asp