Canonical Allele Identifier: CA390514218

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745195G>T (hg19) ; chr14:g.77278852G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278852G>T , CM000676.2:g.77278852G>T	GRCh38
NC_000014.8:g.77745195G>T , CM000676.1:g.77745195G>T	GRCh37
NC_000014.7:g.76814948G>T	NCBI36
NG_008897.1:g.47031C>A , LRG_844:g.47031C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.834C>A
ENST00000556394.2:c.1450C>A	ENSP00000451967.2:p.Leu484Ile
ENST00000682128.1:c.210C>A	ENSP00000506976.1:n.210C>A
ENST00000682247.1:c.1898C>A	ENSP00000507213.1:p.Ala633Asp
ENST00000682395.1:n.2373C>A
ENST00000682459.1:n.1612C>A
ENST00000682467.1:c.1892-344C>A	ENSP00000508062.1:n.1892-344C>A
ENST00000682615.1:n.263C>A
ENST00000682795.1:c.2056C>A	ENSP00000507574.1:p.Leu686Ile
ENST00000682895.1:n.1625C>A
ENST00000682955.1:n.1483C>A
ENST00000683095.1:c.315C>A	ENSP00000508040.1:n.315C>A
ENST00000683188.1:c.2170C>A
ENST00000683380.1:n.1573C>A
ENST00000683828.1:c.1618C>A
ENST00000683907.1:c.174C>A	ENSP00000507754.1:p.Cys58Ter
ENST00000684172.1:c.285C>A	ENSP00000508391.1:n.285C>A
ENST00000684259.1:n.3676C>A
ENST00000684538.1:n.1288C>A
ENST00000684549.1:n.1460C>A
ENST00000261534.9:c.1909C>A MANE Select	ENSP00000261534.4:p.Leu637Ile
ENST00000261534.8:c.1909C>A	ENSP00000261534.4:p.Leu637Ile
ENST00000452340.7:n.2885C>A
ENST00000554767.5:n.2695C>A
ENST00000555134.1:n.834C>A
ENST00000555710.1:c.270C>A	ENSP00000451730.1:n.270C>A
ENST00000556171.1:c.501C>A
ENST00000556394.1:c.88-344C>A
ENST00000556446.1:n.210C>A
ENST00000602717.5:c.124C>A	ENSP00000487704.1:p.Leu42Ile
NM_013382.5:c.1909C>A , LRG_844t1:c.1909C>A	NP_037514.2:p.Leu637Met
XM_011536675.1:c.2098C>A	XP_011534977.1:p.Leu700Ile
XM_011536676.1:c.1765C>A	XP_011534978.1:p.Leu589Ile
XM_011536677.1:c.1639C>A	XP_011534979.1:p.Leu547Ile
XM_011536679.1:c.1192C>A	XP_011534981.1:p.Leu398Ile
XR_943416.1:n.2162C>A
XM_011536675.2:c.2098C>A	XP_011534977.1:p.Leu700Ile
XM_011536676.2:c.1765C>A	XP_011534978.1:p.Leu589Ile
XM_011536677.3:c.1639C>A	XP_011534979.1:p.Leu547Ile
XR_001750279.1:n.2195C>A
XR_001750282.1:n.2848C>A
XR_943416.3:n.2160C>A
NM_013382.6:c.1909C>A	NP_037514.2:p.Leu637Ile
NM_013382.7:c.1909C>A MANE Select	NP_037514.2:p.Leu637Ile