Canonical Allele Identifier: CA390512542

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77743729C>A (hg19) ; chr14:g.77277386C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77277386C>A , CM000676.2:g.77277386C>A	GRCh38
NC_000014.8:g.77743729C>A , CM000676.1:g.77743729C>A	GRCh37
NC_000014.7:g.76813482C>A	NCBI36
NG_008897.1:g.48497G>T , LRG_844:g.48497G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1168G>T
ENST00000556394.2:c.1784G>T	ENSP00000451967.2:p.Trp595Leu
ENST00000682247.1:c.2232G>T	ENSP00000507213.1:p.Met744Ile
ENST00000682395.1:n.2707G>T
ENST00000682459.1:n.1946G>T
ENST00000682467.1:c.2102G>T	ENSP00000508062.1:p.Trp701Leu
ENST00000682795.1:c.2390G>T	ENSP00000507574.1:p.Trp797Leu
ENST00000682895.1:n.1959G>T
ENST00000682897.1:c.96G>T
ENST00000682955.1:n.1817G>T
ENST00000683188.1:c.2504G>T
ENST00000683380.1:n.1907G>T
ENST00000683784.1:c.96G>T
ENST00000684259.1:n.4010G>T
ENST00000684538.1:n.1622G>T
ENST00000684549.1:n.1794G>T
ENST00000261534.9:c.2243G>T MANE Select	ENSP00000261534.4:p.Trp748Leu
ENST00000261534.8:c.2243G>T	ENSP00000261534.4:p.Trp748Leu
ENST00000452340.7:n.3219G>T
ENST00000554767.5:n.3029G>T
ENST00000556394.1:c.298G>T
ENST00000602717.5:c.363-108G>T	ENSP00000487704.1:n.363-108G>T
NM_013382.5:c.2243G>T , LRG_844t1:c.2243G>T	NP_037514.2:p.Trp748Leu
XM_011536675.1:c.2432G>T	XP_011534977.1:p.Trp811Leu
XM_011536676.1:c.2099G>T	XP_011534978.1:p.Trp700Leu
XM_011536677.1:c.1973G>T	XP_011534979.1:p.Trp658Leu
XM_011536679.1:c.1526G>T	XP_011534981.1:p.Trp509Leu
XR_943416.1:n.2496G>T
XM_011536675.2:c.2432G>T	XP_011534977.1:p.Trp811Leu
XM_011536676.2:c.2099G>T	XP_011534978.1:p.Trp700Leu
XM_011536677.3:c.1973G>T	XP_011534979.1:p.Trp658Leu
XR_001750279.1:n.2529G>T
XR_001750282.1:n.3182G>T
XR_943416.3:n.2494G>T
NM_013382.6:c.2243G>T	NP_037514.2:p.Trp748Leu
NM_013382.7:c.2243G>T MANE Select	NP_037514.2:p.Trp748Leu