Canonical Allele Identifier: CA390514140

Gene: POMT2

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.853T>C
ENST00000556394.2:c.1469T>C	ENSP00000451967.2:p.Val490Ala
ENST00000682128.1:c.229T>C	ENSP00000506976.1:n.229T>C
ENST00000682247.1:c.1917T>C	ENSP00000507213.1:p.Gly639=
ENST00000682395.1:n.2392T>C
ENST00000682459.1:n.1631T>C
ENST00000682467.1:c.1892-325T>C	ENSP00000508062.1:n.1892-325T>C
ENST00000682615.1:n.282T>C
ENST00000682795.1:c.2075T>C	ENSP00000507574.1:p.Val692Ala
ENST00000682895.1:n.1644T>C
ENST00000682955.1:n.1502T>C
ENST00000683095.1:c.334T>C	ENSP00000508040.1:n.334T>C
ENST00000683188.1:c.2189T>C
ENST00000683380.1:n.1592T>C
ENST00000683828.1:c.1637T>C
ENST00000683907.1:c.193T>C	ENSP00000507754.1:p.Ser65Pro
ENST00000684172.1:c.304T>C	ENSP00000508391.1:n.304T>C
ENST00000684259.1:n.3695T>C
ENST00000684538.1:n.1307T>C
ENST00000684549.1:n.1479T>C
ENST00000261534.9:c.1928T>C MANE Select	ENSP00000261534.4:p.Val643Ala
ENST00000261534.8:c.1928T>C	ENSP00000261534.4:p.Val643Ala
ENST00000452340.7:n.2904T>C
ENST00000554767.5:n.2714T>C
ENST00000555134.1:n.853T>C
ENST00000555710.1:c.289T>C	ENSP00000451730.1:n.289T>C
ENST00000556171.1:c.520T>C
ENST00000556394.1:c.88-325T>C
ENST00000556446.1:n.229T>C
ENST00000602717.5:c.143T>C	ENSP00000487704.1:p.Val48Ala
NM_013382.5:c.1928T>C , LRG_844t1:c.1928T>C	NP_037514.2:p.Val643Ala
XM_011536675.1:c.2117T>C	XP_011534977.1:p.Val706Ala
XM_011536676.1:c.1784T>C	XP_011534978.1:p.Val595Ala
XM_011536677.1:c.1658T>C	XP_011534979.1:p.Val553Ala
XM_011536679.1:c.1211T>C	XP_011534981.1:p.Val404Ala
XR_943416.1:n.2181T>C
XM_011536675.2:c.2117T>C	XP_011534977.1:p.Val706Ala
XM_011536676.2:c.1784T>C	XP_011534978.1:p.Val595Ala
XM_011536677.3:c.1658T>C	XP_011534979.1:p.Val553Ala
XR_001750279.1:n.2214T>C
XR_001750282.1:n.2867T>C
XR_943416.3:n.2179T>C
NM_013382.6:c.1928T>C	NP_037514.2:p.Val643Ala
NM_013382.7:c.1928T>C MANE Select	NP_037514.2:p.Val643Ala