Canonical Allele Identifier: CA390513643

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744836G>C (hg19) ; chr14:g.77278493G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278493G>C , CM000676.2:g.77278493G>C	GRCh38
NC_000014.8:g.77744836G>C , CM000676.1:g.77744836G>C	GRCh37
NC_000014.7:g.76814589G>C	NCBI36
NG_008897.1:g.47390C>G , LRG_844:g.47390C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.973C>G
ENST00000556394.2:c.1589C>G	ENSP00000451967.2:p.Thr530Ser
ENST00000682247.1:c.2037C>G	ENSP00000507213.1:p.His679Gln
ENST00000682395.1:n.2512C>G
ENST00000682459.1:n.1751C>G
ENST00000682467.1:c.1907C>G	ENSP00000508062.1:p.Thr636Ser
ENST00000682795.1:c.2195C>G	ENSP00000507574.1:p.Thr732Ser
ENST00000682895.1:n.1764C>G
ENST00000682955.1:n.1622C>G
ENST00000683188.1:c.2309C>G
ENST00000683380.1:n.1712C>G
ENST00000683907.1:c.313C>G	ENSP00000507754.1:n.313C>G
ENST00000684259.1:n.3815C>G
ENST00000684538.1:n.1427C>G
ENST00000684549.1:n.1599C>G
ENST00000261534.9:c.2048C>G MANE Select	ENSP00000261534.4:p.Thr683Ser
ENST00000261534.8:c.2048C>G	ENSP00000261534.4:p.Thr683Ser
ENST00000452340.7:n.3024C>G
ENST00000554767.5:n.2834C>G
ENST00000555710.1:c.409C>G	ENSP00000451730.1:n.409C>G
ENST00000556394.1:c.103C>G
ENST00000556446.1:n.349C>G
ENST00000602717.5:c.263C>G	ENSP00000487704.1:p.Thr88Ser
NM_013382.5:c.2048C>G , LRG_844t1:c.2048C>G	NP_037514.2:p.Thr683Ser
XM_011536675.1:c.2237C>G	XP_011534977.1:p.Thr746Ser
XM_011536676.1:c.1904C>G	XP_011534978.1:p.Thr635Ser
XM_011536677.1:c.1778C>G	XP_011534979.1:p.Thr593Ser
XM_011536679.1:c.1331C>G	XP_011534981.1:p.Thr444Ser
XR_943416.1:n.2301C>G
XM_011536675.2:c.2237C>G	XP_011534977.1:p.Thr746Ser
XM_011536676.2:c.1904C>G	XP_011534978.1:p.Thr635Ser
XM_011536677.3:c.1778C>G	XP_011534979.1:p.Thr593Ser
XR_001750279.1:n.2334C>G
XR_001750282.1:n.2987C>G
XR_943416.3:n.2299C>G
NM_013382.6:c.2048C>G	NP_037514.2:p.Thr683Ser
NM_013382.7:c.2048C>G MANE Select	NP_037514.2:p.Thr683Ser