Canonical Allele Identifier: CA2148315932

Gene: POMT2

Linked Data

• dbSNP Id: rs1594884180
• gnomAD v4: 14-77279129-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279129A>C , CM000676.2:g.77279129A>C	GRCh38
NC_000014.8:g.77745472A>C , CM000676.1:g.77745472A>C	GRCh37
NC_000014.7:g.76815225A>C	NCBI36
NG_008897.1:g.46754T>G , LRG_844:g.46754T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-260T>G
ENST00000556394.2:c.1433-260T>G	ENSP00000451967.2:n.1433-260T>G
ENST00000682128.1:c.193-260T>G	ENSP00000506976.1:n.193-260T>G
ENST00000682247.1:c.1892-271T>G	ENSP00000507213.1:n.1892-271T>G
ENST00000682395.1:n.2356-260T>G
ENST00000682459.1:n.1595-260T>G
ENST00000682467.1:c.1892-621T>G	ENSP00000508062.1:n.1892-621T>G
ENST00000682615.1:n.246-260T>G
ENST00000682795.1:c.2039-260T>G	ENSP00000507574.1:n.2039-260T>G
ENST00000682895.1:n.1608-260T>G
ENST00000682955.1:n.1466-260T>G
ENST00000683095.1:c.298-260T>G	ENSP00000508040.1:n.298-260T>G
ENST00000683188.1:c.2153-260T>G
ENST00000683380.1:n.1556-260T>G
ENST00000683828.1:c.1601-260T>G
ENST00000683907.1:c.157-260T>G	ENSP00000507754.1:n.157-260T>G
ENST00000684172.1:c.268-260T>G	ENSP00000508391.1:n.268-260T>G
ENST00000684259.1:n.3399T>G
ENST00000684538.1:n.1011T>G
ENST00000684549.1:n.1443-260T>G
ENST00000261534.9:c.1892-260T>G MANE Select	ENSP00000261534.4:n.1892-260T>G
ENST00000261534.8:c.1892-260T>G	ENSP00000261534.4:n.1892-260T>G
ENST00000452340.7:n.2608T>G
ENST00000554767.5:n.2678-260T>G
ENST00000555134.1:n.817-260T>G
ENST00000555710.1:c.161-168T>G	ENSP00000451730.1:n.161-168T>G
ENST00000556171.1:c.484-260T>G
ENST00000556394.1:c.88-621T>G
ENST00000602717.5:c.107-260T>G	ENSP00000487704.1:n.107-260T>G
NM_013382.5:c.1892-260T>G , LRG_844t1:c.1892-260T>G	NP_037514.2:n.1892-260T>G
XM_011536675.1:c.2081-260T>G	XP_011534977.1:n.2081-260T>G
XM_011536676.1:c.1748-260T>G	XP_011534978.1:n.1748-260T>G
XM_011536677.1:c.1622-260T>G	XP_011534979.1:n.1622-260T>G
XM_011536678.1:c.*369T>G	XP_011534980.1:n.*369T>G
XM_011536679.1:c.1175-260T>G	XP_011534981.1:n.1175-260T>G
XR_943416.1:n.2145-260T>G
XM_011536675.2:c.2081-260T>G	XP_011534977.1:n.2081-260T>G
XM_011536676.2:c.1748-260T>G	XP_011534978.1:n.1748-260T>G
XM_011536677.3:c.1622-260T>G	XP_011534979.1:n.1622-260T>G
XR_001750279.1:n.2178-260T>G
XR_001750282.1:n.2831-260T>G
XR_943416.3:n.2143-260T>G
NM_013382.6:c.1892-260T>G	NP_037514.2:n.1892-260T>G
NM_013382.7:c.1892-260T>G MANE Select	NP_037514.2:n.1892-260T>G