Canonical Allele Identifier: CA2625846354

Gene: POMT2

Linked Data

• gnomAD v4: 14-77279172-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279172C>A , CM000676.2:g.77279172C>A	GRCh38
NC_000014.8:g.77745515C>A , CM000676.1:g.77745515C>A	GRCh37
NC_000014.7:g.76815268C>A	NCBI36
NG_008897.1:g.46711G>T , LRG_844:g.46711G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-303G>T
ENST00000556394.2:c.1433-303G>T	ENSP00000451967.2:n.1433-303G>T
ENST00000682128.1:c.193-303G>T	ENSP00000506976.1:n.193-303G>T
ENST00000682247.1:c.1892-314G>T	ENSP00000507213.1:n.1892-314G>T
ENST00000682395.1:n.2356-303G>T
ENST00000682459.1:n.1595-303G>T
ENST00000682467.1:c.1891+651G>T	ENSP00000508062.1:n.1891+651G>T
ENST00000682615.1:n.246-303G>T
ENST00000682795.1:c.2039-303G>T	ENSP00000507574.1:n.2039-303G>T
ENST00000682895.1:n.1608-303G>T
ENST00000682955.1:n.1466-303G>T
ENST00000683095.1:c.298-303G>T	ENSP00000508040.1:n.298-303G>T
ENST00000683188.1:c.2153-303G>T
ENST00000683380.1:n.1556-303G>T
ENST00000683828.1:c.1601-303G>T
ENST00000683907.1:c.157-303G>T	ENSP00000507754.1:n.157-303G>T
ENST00000684172.1:c.268-303G>T	ENSP00000508391.1:n.268-303G>T
ENST00000684259.1:n.3356G>T
ENST00000684538.1:n.968G>T
ENST00000684549.1:n.1443-303G>T
ENST00000261534.9:c.1892-303G>T MANE Select	ENSP00000261534.4:n.1892-303G>T
ENST00000261534.8:c.1892-303G>T	ENSP00000261534.4:n.1892-303G>T
ENST00000452340.7:n.2565G>T
ENST00000554767.5:n.2678-303G>T
ENST00000555134.1:n.817-303G>T
ENST00000555710.1:c.161-211G>T	ENSP00000451730.1:n.161-211G>T
ENST00000556171.1:c.484-303G>T
ENST00000556394.1:c.87+651G>T
ENST00000602717.5:c.107-303G>T	ENSP00000487704.1:n.107-303G>T
NM_013382.5:c.1892-303G>T , LRG_844t1:c.1892-303G>T	NP_037514.2:n.1892-303G>T
XM_011536675.1:c.2081-303G>T	XP_011534977.1:n.2081-303G>T
XM_011536676.1:c.1748-303G>T	XP_011534978.1:n.1748-303G>T
XM_011536677.1:c.1622-303G>T	XP_011534979.1:n.1622-303G>T
XM_011536678.1:c.*326G>T	XP_011534980.1:n.*326G>T
XM_011536679.1:c.1175-303G>T	XP_011534981.1:n.1175-303G>T
XR_943416.1:n.2145-303G>T
XM_011536675.2:c.2081-303G>T	XP_011534977.1:n.2081-303G>T
XM_011536676.2:c.1748-303G>T	XP_011534978.1:n.1748-303G>T
XM_011536677.3:c.1622-303G>T	XP_011534979.1:n.1622-303G>T
XR_001750279.1:n.2178-303G>T
XR_001750282.1:n.2831-303G>T
XR_943416.3:n.2143-303G>T
NM_013382.6:c.1892-303G>T	NP_037514.2:n.1892-303G>T
NM_013382.7:c.1892-303G>T MANE Select	NP_037514.2:n.1892-303G>T