Canonical Allele Identifier: CA2625845473
Gene: POMT2 HGNC NCBI

Linked Data

dbSNP Id: rs2140161543

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.77278643G>A , CM000676.2:g.77278643G>A GRCh38
NC_000014.8:g.77744986G>A , CM000676.1:g.77744986G>A GRCh37
NC_000014.7:g.76814739G>A NCBI36
NG_008897.1:g.47240C>T , LRG_844:g.47240C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000555134.2:n.957+86C>T
ENST00000556394.2:c.1573+86C>T ENSP00000451967.2:n.1573+86C>T
ENST00000682247.1:c.2021+86C>T ENSP00000507213.1:n.2021+86C>T
ENST00000682395.1:n.2496+86C>T
ENST00000682459.1:n.1735+86C>T
ENST00000682467.1:c.1892-135C>T ENSP00000508062.1:n.1892-135C>T
ENST00000682795.1:c.2179+86C>T ENSP00000507574.1:n.2179+86C>T
ENST00000682895.1:n.1748+86C>T
ENST00000682955.1:n.1606+86C>T
ENST00000683188.1:c.2293+86C>T
ENST00000683380.1:n.1696+86C>T
ENST00000683907.1:c.297+86C>T ENSP00000507754.1:n.297+86C>T
ENST00000684259.1:n.3799+86C>T
ENST00000684538.1:n.1411+86C>T
ENST00000684549.1:n.1583+86C>T
ENST00000261534.9:c.2032+86C>T MANE Select ENSP00000261534.4:n.2032+86C>T
ENST00000261534.8:c.2032+86C>T ENSP00000261534.4:n.2032+86C>T
ENST00000452340.7:n.3008+86C>T
ENST00000554767.5:n.2818+86C>T
ENST00000555710.1:c.393+86C>T ENSP00000451730.1:n.393+86C>T
ENST00000556394.1:c.88-135C>T
ENST00000556446.1:n.333+86C>T
ENST00000602717.5:c.247+86C>T ENSP00000487704.1:n.247+86C>T
NM_013382.5:c.2032+86C>T , LRG_844t1:c.2032+86C>T NP_037514.2:n.2032+86C>T
XM_011536675.1:c.2221+86C>T XP_011534977.1:n.2221+86C>T
XM_011536676.1:c.1888+86C>T XP_011534978.1:n.1888+86C>T
XM_011536677.1:c.1762+86C>T XP_011534979.1:n.1762+86C>T
XM_011536679.1:c.1315+86C>T XP_011534981.1:n.1315+86C>T
XR_943416.1:n.2285+86C>T
XM_011536675.2:c.2221+86C>T XP_011534977.1:n.2221+86C>T
XM_011536676.2:c.1888+86C>T XP_011534978.1:n.1888+86C>T
XM_011536677.3:c.1762+86C>T XP_011534979.1:n.1762+86C>T
XR_001750279.1:n.2318+86C>T
XR_001750282.1:n.2971+86C>T
XR_943416.3:n.2283+86C>T
NM_013382.6:c.2032+86C>T NP_037514.2:n.2032+86C>T
NM_013382.7:c.2032+86C>T MANE Select NP_037514.2:n.2032+86C>T