Canonical Allele Identifier: CA390514261

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745207A>C (hg19) ; chr14:g.77278864A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278864A>C , CM000676.2:g.77278864A>C	GRCh38
NC_000014.8:g.77745207A>C , CM000676.1:g.77745207A>C	GRCh37
NC_000014.7:g.76814960A>C	NCBI36
NG_008897.1:g.47019T>G , LRG_844:g.47019T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.822T>G
ENST00000556394.2:c.1438T>G	ENSP00000451967.2:p.Ser480Ala
ENST00000682128.1:c.198T>G	ENSP00000506976.1:n.198T>G
ENST00000682247.1:c.1892-6T>G	ENSP00000507213.1:n.1892-6T>G
ENST00000682395.1:n.2361T>G
ENST00000682459.1:n.1600T>G
ENST00000682467.1:c.1892-356T>G	ENSP00000508062.1:n.1892-356T>G
ENST00000682615.1:n.251T>G
ENST00000682795.1:c.2044T>G	ENSP00000507574.1:p.Ser682Ala
ENST00000682895.1:n.1613T>G
ENST00000682955.1:n.1471T>G
ENST00000683095.1:c.303T>G	ENSP00000508040.1:n.303T>G
ENST00000683188.1:c.2158T>G
ENST00000683380.1:n.1561T>G
ENST00000683828.1:c.1606T>G
ENST00000683907.1:c.162T>G	ENSP00000507754.1:p.Cys54Trp
ENST00000684172.1:c.273T>G	ENSP00000508391.1:n.273T>G
ENST00000684259.1:n.3664T>G
ENST00000684538.1:n.1276T>G
ENST00000684549.1:n.1448T>G
ENST00000261534.9:c.1897T>G MANE Select	ENSP00000261534.4:p.Ser633Ala
ENST00000261534.8:c.1897T>G	ENSP00000261534.4:p.Ser633Ala
ENST00000452340.7:n.2873T>G
ENST00000554767.5:n.2683T>G
ENST00000555134.1:n.822T>G
ENST00000555710.1:c.258T>G	ENSP00000451730.1:n.258T>G
ENST00000556171.1:c.489T>G
ENST00000556394.1:c.88-356T>G
ENST00000556446.1:n.198T>G
ENST00000602717.5:c.112T>G	ENSP00000487704.1:p.Ser38Ala
NM_013382.5:c.1897T>G , LRG_844t1:c.1897T>G	NP_037514.2:p.Ser633Ala
XM_011536675.1:c.2086T>G	XP_011534977.1:p.Ser696Ala
XM_011536676.1:c.1753T>G	XP_011534978.1:p.Ser585Ala
XM_011536677.1:c.1627T>G	XP_011534979.1:p.Ser543Ala
XM_011536679.1:c.1180T>G	XP_011534981.1:p.Ser394Ala
XR_943416.1:n.2150T>G
XM_011536675.2:c.2086T>G	XP_011534977.1:p.Ser696Ala
XM_011536676.2:c.1753T>G	XP_011534978.1:p.Ser585Ala
XM_011536677.3:c.1627T>G	XP_011534979.1:p.Ser543Ala
XR_001750279.1:n.2183T>G
XR_001750282.1:n.2836T>G
XR_943416.3:n.2148T>G
NM_013382.6:c.1897T>G	NP_037514.2:p.Ser633Ala
NM_013382.7:c.1897T>G MANE Select	NP_037514.2:p.Ser633Ala