Canonical Allele Identifier: CA263817891

Gene: POMT2

Linked Data

• dbSNP Id: rs1001480474
• gnomAD v4: 14-77279175-A-C
• MyVariant Identifiers: chr14:g.77745518A>C (hg19) ; chr14:g.77279175A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279175A>C , CM000676.2:g.77279175A>C	GRCh38
NC_000014.8:g.77745518A>C , CM000676.1:g.77745518A>C	GRCh37
NC_000014.7:g.76815271A>C	NCBI36
NG_008897.1:g.46708T>G , LRG_844:g.46708T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-306T>G
ENST00000556394.2:c.1433-306T>G	ENSP00000451967.2:n.1433-306T>G
ENST00000682128.1:c.193-306T>G	ENSP00000506976.1:n.193-306T>G
ENST00000682247.1:c.1892-317T>G	ENSP00000507213.1:n.1892-317T>G
ENST00000682395.1:n.2356-306T>G
ENST00000682459.1:n.1595-306T>G
ENST00000682467.1:c.1891+648T>G	ENSP00000508062.1:n.1891+648T>G
ENST00000682615.1:n.246-306T>G
ENST00000682795.1:c.2039-306T>G	ENSP00000507574.1:n.2039-306T>G
ENST00000682895.1:n.1608-306T>G
ENST00000682955.1:n.1466-306T>G
ENST00000683095.1:c.298-306T>G	ENSP00000508040.1:n.298-306T>G
ENST00000683188.1:c.2153-306T>G
ENST00000683380.1:n.1556-306T>G
ENST00000683828.1:c.1601-306T>G
ENST00000683907.1:c.157-306T>G	ENSP00000507754.1:n.157-306T>G
ENST00000684172.1:c.268-306T>G	ENSP00000508391.1:n.268-306T>G
ENST00000684259.1:n.3353T>G
ENST00000684538.1:n.965T>G
ENST00000684549.1:n.1443-306T>G
ENST00000261534.9:c.1892-306T>G MANE Select	ENSP00000261534.4:n.1892-306T>G
ENST00000261534.8:c.1892-306T>G	ENSP00000261534.4:n.1892-306T>G
ENST00000452340.7:n.2562T>G
ENST00000554767.5:n.2678-306T>G
ENST00000555134.1:n.817-306T>G
ENST00000555710.1:c.161-214T>G	ENSP00000451730.1:n.161-214T>G
ENST00000556171.1:c.484-306T>G
ENST00000556394.1:c.87+648T>G
ENST00000602717.5:c.107-306T>G	ENSP00000487704.1:n.107-306T>G
NM_013382.5:c.1892-306T>G , LRG_844t1:c.1892-306T>G	NP_037514.2:n.1892-306T>G
XM_011536675.1:c.2081-306T>G	XP_011534977.1:n.2081-306T>G
XM_011536676.1:c.1748-306T>G	XP_011534978.1:n.1748-306T>G
XM_011536677.1:c.1622-306T>G	XP_011534979.1:n.1622-306T>G
XM_011536678.1:c.*323T>G	XP_011534980.1:n.*323T>G
XM_011536679.1:c.1175-306T>G	XP_011534981.1:n.1175-306T>G
XR_943416.1:n.2145-306T>G
XM_011536675.2:c.2081-306T>G	XP_011534977.1:n.2081-306T>G
XM_011536676.2:c.1748-306T>G	XP_011534978.1:n.1748-306T>G
XM_011536677.3:c.1622-306T>G	XP_011534979.1:n.1622-306T>G
XR_001750279.1:n.2178-306T>G
XR_001750282.1:n.2831-306T>G
XR_943416.3:n.2143-306T>G
NM_013382.6:c.1892-306T>G	NP_037514.2:n.1892-306T>G
NM_013382.7:c.1892-306T>G MANE Select	NP_037514.2:n.1892-306T>G