Canonical Allele Identifier: CA2625846225

Gene: POMT2

Linked Data

• gnomAD v4: 14-77279047-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279047G>T , CM000676.2:g.77279047G>T	GRCh38
NC_000014.8:g.77745390G>T , CM000676.1:g.77745390G>T	GRCh37
NC_000014.7:g.76815143G>T	NCBI36
NG_008897.1:g.46836C>A , LRG_844:g.46836C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-178C>A
ENST00000556394.2:c.1433-178C>A	ENSP00000451967.2:n.1433-178C>A
ENST00000682128.1:c.193-178C>A	ENSP00000506976.1:n.193-178C>A
ENST00000682247.1:c.1892-189C>A	ENSP00000507213.1:n.1892-189C>A
ENST00000682395.1:n.2356-178C>A
ENST00000682459.1:n.1595-178C>A
ENST00000682467.1:c.1892-539C>A	ENSP00000508062.1:n.1892-539C>A
ENST00000682615.1:n.246-178C>A
ENST00000682795.1:c.2039-178C>A	ENSP00000507574.1:n.2039-178C>A
ENST00000682895.1:n.1608-178C>A
ENST00000682955.1:n.1466-178C>A
ENST00000683095.1:c.298-178C>A	ENSP00000508040.1:n.298-178C>A
ENST00000683188.1:c.2153-178C>A
ENST00000683380.1:n.1556-178C>A
ENST00000683828.1:c.1601-178C>A
ENST00000683907.1:c.157-178C>A	ENSP00000507754.1:n.157-178C>A
ENST00000684172.1:c.268-178C>A	ENSP00000508391.1:n.268-178C>A
ENST00000684259.1:n.3481C>A
ENST00000684538.1:n.1093C>A
ENST00000684549.1:n.1443-178C>A
ENST00000261534.9:c.1892-178C>A MANE Select	ENSP00000261534.4:n.1892-178C>A
ENST00000261534.8:c.1892-178C>A	ENSP00000261534.4:n.1892-178C>A
ENST00000452340.7:n.2690C>A
ENST00000554767.5:n.2678-178C>A
ENST00000555134.1:n.817-178C>A
ENST00000555710.1:c.161-86C>A	ENSP00000451730.1:n.161-86C>A
ENST00000556171.1:c.484-178C>A
ENST00000556394.1:c.88-539C>A
ENST00000556446.1:n.15C>A
ENST00000602717.5:c.107-178C>A	ENSP00000487704.1:n.107-178C>A
NM_013382.5:c.1892-178C>A , LRG_844t1:c.1892-178C>A	NP_037514.2:n.1892-178C>A
XM_011536675.1:c.2081-178C>A	XP_011534977.1:n.2081-178C>A
XM_011536676.1:c.1748-178C>A	XP_011534978.1:n.1748-178C>A
XM_011536677.1:c.1622-178C>A	XP_011534979.1:n.1622-178C>A
XM_011536678.1:c.*451C>A	XP_011534980.1:n.*451C>A
XM_011536679.1:c.1175-178C>A	XP_011534981.1:n.1175-178C>A
XR_943416.1:n.2145-178C>A
XM_011536675.2:c.2081-178C>A	XP_011534977.1:n.2081-178C>A
XM_011536676.2:c.1748-178C>A	XP_011534978.1:n.1748-178C>A
XM_011536677.3:c.1622-178C>A	XP_011534979.1:n.1622-178C>A
XR_001750279.1:n.2178-178C>A
XR_001750282.1:n.2831-178C>A
XR_943416.3:n.2143-178C>A
NM_013382.6:c.1892-178C>A	NP_037514.2:n.1892-178C>A
NM_013382.7:c.1892-178C>A MANE Select	NP_037514.2:n.1892-178C>A