Canonical Allele Identifier: CA390513654

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744838G>C (hg19) ; chr14:g.77278495G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278495G>C , CM000676.2:g.77278495G>C	GRCh38
NC_000014.8:g.77744838G>C , CM000676.1:g.77744838G>C	GRCh37
NC_000014.7:g.76814591G>C	NCBI36
NG_008897.1:g.47388C>G , LRG_844:g.47388C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.971C>G
ENST00000556394.2:c.1587C>G	ENSP00000451967.2:p.Asp529Glu
ENST00000682247.1:c.2035C>G	ENSP00000507213.1:p.His679Asp
ENST00000682395.1:n.2510C>G
ENST00000682459.1:n.1749C>G
ENST00000682467.1:c.1905C>G	ENSP00000508062.1:p.Asp635Glu
ENST00000682795.1:c.2193C>G	ENSP00000507574.1:p.Asp731Glu
ENST00000682895.1:n.1762C>G
ENST00000682955.1:n.1620C>G
ENST00000683188.1:c.2307C>G
ENST00000683380.1:n.1710C>G
ENST00000683907.1:c.311C>G	ENSP00000507754.1:n.311C>G
ENST00000684259.1:n.3813C>G
ENST00000684538.1:n.1425C>G
ENST00000684549.1:n.1597C>G
ENST00000261534.9:c.2046C>G MANE Select	ENSP00000261534.4:p.Asp682Glu
ENST00000261534.8:c.2046C>G	ENSP00000261534.4:p.Asp682Glu
ENST00000452340.7:n.3022C>G
ENST00000554767.5:n.2832C>G
ENST00000555710.1:c.407C>G	ENSP00000451730.1:n.407C>G
ENST00000556394.1:c.101C>G
ENST00000556446.1:n.347C>G
ENST00000602717.5:c.261C>G	ENSP00000487704.1:p.Asp87Glu
NM_013382.5:c.2046C>G , LRG_844t1:c.2046C>G	NP_037514.2:p.Asp682Glu
XM_011536675.1:c.2235C>G	XP_011534977.1:p.Asp745Glu
XM_011536676.1:c.1902C>G	XP_011534978.1:p.Asp634Glu
XM_011536677.1:c.1776C>G	XP_011534979.1:p.Asp592Glu
XM_011536679.1:c.1329C>G	XP_011534981.1:p.Asp443Glu
XR_943416.1:n.2299C>G
XM_011536675.2:c.2235C>G	XP_011534977.1:p.Asp745Glu
XM_011536676.2:c.1902C>G	XP_011534978.1:p.Asp634Glu
XM_011536677.3:c.1776C>G	XP_011534979.1:p.Asp592Glu
XR_001750279.1:n.2332C>G
XR_001750282.1:n.2985C>G
XR_943416.3:n.2297C>G
NM_013382.6:c.2046C>G	NP_037514.2:p.Asp682Glu
NM_013382.7:c.2046C>G MANE Select	NP_037514.2:p.Asp682Glu