Canonical Allele Identifier: CA390520969

Gene: POMT2

Linked Data

• dbSNP Id: rs1891229800
• gnomAD v3: 14-77306363-G-A
• gnomAD v4: 14-77306363-G-A
• MyVariant Identifiers: chr14:g.77772706G>A (hg19) ; chr14:g.77306363G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306363G>A , CM000676.2:g.77306363G>A	GRCh38
NC_000014.8:g.77772706G>A , CM000676.1:g.77772706G>A	GRCh37
NC_000014.7:g.76842459G>A	NCBI36
NG_008897.1:g.19520C>T , LRG_844:g.19520C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.141C>T
ENST00000556394.2:c.249-1563C>T	ENSP00000451967.2:n.249-1563C>T
ENST00000556880.6:n.345C>T
ENST00000682247.1:c.412C>T	ENSP00000507213.1:p.His138Tyr
ENST00000682382.1:c.360C>T
ENST00000682395.1:n.141C>T
ENST00000682459.1:n.102+39C>T
ENST00000682467.1:c.412C>T	ENSP00000508062.1:p.His138Tyr
ENST00000682795.1:c.412C>T	ENSP00000507574.1:p.His138Tyr
ENST00000682895.1:n.128C>T
ENST00000682955.1:n.102+39C>T
ENST00000683188.1:c.207C>T
ENST00000683380.1:n.102+39C>T
ENST00000683828.1:c.281C>T
ENST00000684066.1:n.107C>T
ENST00000684102.1:n.158C>T
ENST00000684259.1:n.263C>T
ENST00000684479.1:n.79C>T
ENST00000684549.1:n.141C>T
ENST00000684600.1:c.226C>T
ENST00000684670.1:n.79C>T
ENST00000684746.1:n.109C>T
ENST00000261534.9:c.412C>T MANE Select	ENSP00000261534.4:p.His138Tyr
ENST00000261534.8:c.412C>T	ENSP00000261534.4:p.His138Tyr
ENST00000452340.7:n.435C>T
ENST00000553863.5:n.102+39C>T
ENST00000554948.1:c.139C>T	ENSP00000452060.1:p.His47Tyr
ENST00000555675.5:n.128C>T
ENST00000555788.5:n.246C>T
ENST00000556326.5:c.*78C>T	ENSP00000450630.1:n.*78C>T
ENST00000556880.5:n.345C>T
ENST00000557525.1:n.502C>T
NM_013382.5:c.412C>T , LRG_844t1:c.412C>T	NP_037514.2:p.His138Tyr
XM_011536675.1:c.412C>T	XP_011534977.1:p.His138Tyr
XM_011536676.1:c.79C>T	XP_011534978.1:p.His27Tyr
XM_011536677.1:c.412C>T	XP_011534979.1:p.His138Tyr
XM_011536678.1:c.412C>T	XP_011534980.1:p.His138Tyr
XM_011536680.1:c.412C>T	XP_011534982.1:p.His138Tyr
XR_943416.1:n.615C>T
XM_011536675.2:c.412C>T	XP_011534977.1:p.His138Tyr
XM_011536676.2:c.79C>T	XP_011534978.1:p.His27Tyr
XM_011536677.3:c.412C>T	XP_011534979.1:p.His138Tyr
XR_001750279.1:n.612C>T
XR_001750282.1:n.616C>T
XR_943416.3:n.613C>T
NM_013382.6:c.412C>T	NP_037514.2:p.His138Tyr
NM_013382.7:c.412C>T MANE Select	NP_037514.2:p.His138Tyr