Canonical Allele Identifier: CA390513720

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745078A>T (hg19) ; chr14:g.77278735A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278735A>T , CM000676.2:g.77278735A>T	GRCh38
NC_000014.8:g.77745078A>T , CM000676.1:g.77745078A>T	GRCh37
NC_000014.7:g.76814831A>T	NCBI36
NG_008897.1:g.47148T>A , LRG_844:g.47148T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.951T>A
ENST00000556394.2:c.1567T>A	ENSP00000451967.2:p.Leu523Met
ENST00000682128.1:c.327T>A	ENSP00000506976.1:n.327T>A
ENST00000682247.1:c.2015T>A	ENSP00000507213.1:p.Val672Asp
ENST00000682395.1:n.2490T>A
ENST00000682459.1:n.1729T>A
ENST00000682467.1:c.1892-227T>A	ENSP00000508062.1:n.1892-227T>A
ENST00000682615.1:n.380T>A
ENST00000682795.1:c.2173T>A	ENSP00000507574.1:p.Leu725Met
ENST00000682895.1:n.1742T>A
ENST00000682955.1:n.1600T>A
ENST00000683095.1:c.432T>A	ENSP00000508040.1:n.432T>A
ENST00000683188.1:c.2287T>A
ENST00000683380.1:n.1690T>A
ENST00000683907.1:c.291T>A	ENSP00000507754.1:n.291T>A
ENST00000684172.1:c.402T>A	ENSP00000508391.1:n.402T>A
ENST00000684259.1:n.3793T>A
ENST00000684538.1:n.1405T>A
ENST00000684549.1:n.1577T>A
ENST00000261534.9:c.2026T>A MANE Select	ENSP00000261534.4:p.Leu676Met
ENST00000261534.8:c.2026T>A	ENSP00000261534.4:p.Leu676Met
ENST00000452340.7:n.3002T>A
ENST00000554767.5:n.2812T>A
ENST00000555710.1:c.387T>A	ENSP00000451730.1:n.387T>A
ENST00000556394.1:c.88-227T>A
ENST00000556446.1:n.327T>A
ENST00000602717.5:c.241T>A	ENSP00000487704.1:p.Leu81Met
NM_013382.5:c.2026T>A , LRG_844t1:c.2026T>A	NP_037514.2:p.Leu676Met
XM_011536675.1:c.2215T>A	XP_011534977.1:p.Leu739Met
XM_011536676.1:c.1882T>A	XP_011534978.1:p.Leu628Met
XM_011536677.1:c.1756T>A	XP_011534979.1:p.Leu586Met
XM_011536679.1:c.1309T>A	XP_011534981.1:p.Leu437Met
XR_943416.1:n.2279T>A
XM_011536675.2:c.2215T>A	XP_011534977.1:p.Leu739Met
XM_011536676.2:c.1882T>A	XP_011534978.1:p.Leu628Met
XM_011536677.3:c.1756T>A	XP_011534979.1:p.Leu586Met
XR_001750279.1:n.2312T>A
XR_001750282.1:n.2965T>A
XR_943416.3:n.2277T>A
NM_013382.6:c.2026T>A	NP_037514.2:p.Leu676Met
NM_013382.7:c.2026T>A MANE Select	NP_037514.2:p.Leu676Met