Canonical Allele Identifier: CA7285599

Gene: POMT2

Linked Data

• dbSNP Id: rs780096376
• ExAC: 14:77745230 A / G
• gnomAD v2: 14-77745230-A-G
• gnomAD v3: 14-77278887-A-G
• gnomAD v4: 14-77278887-A-G
• MyVariant Identifiers: chr14:g.77745230A>G (hg19) ; chr14:g.77278887A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278887A>G , CM000676.2:g.77278887A>G	GRCh38
NC_000014.8:g.77745230A>G , CM000676.1:g.77745230A>G	GRCh37
NC_000014.7:g.76814983A>G	NCBI36
NG_008897.1:g.46996T>C , LRG_844:g.46996T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-18T>C
ENST00000556394.2:c.1433-18T>C	ENSP00000451967.2:n.1433-18T>C
ENST00000682128.1:c.193-18T>C	ENSP00000506976.1:n.193-18T>C
ENST00000682247.1:c.1892-29T>C	ENSP00000507213.1:n.1892-29T>C
ENST00000682395.1:n.2356-18T>C
ENST00000682459.1:n.1595-18T>C
ENST00000682467.1:c.1892-379T>C	ENSP00000508062.1:n.1892-379T>C
ENST00000682615.1:n.246-18T>C
ENST00000682795.1:c.2039-18T>C	ENSP00000507574.1:n.2039-18T>C
ENST00000682895.1:n.1608-18T>C
ENST00000682955.1:n.1466-18T>C
ENST00000683095.1:c.298-18T>C	ENSP00000508040.1:n.298-18T>C
ENST00000683188.1:c.2153-18T>C
ENST00000683380.1:n.1556-18T>C
ENST00000683828.1:c.1601-18T>C
ENST00000683907.1:c.157-18T>C	ENSP00000507754.1:n.157-18T>C
ENST00000684172.1:c.268-18T>C	ENSP00000508391.1:n.268-18T>C
ENST00000684259.1:n.3641T>C
ENST00000684538.1:n.1253T>C
ENST00000684549.1:n.1443-18T>C
ENST00000261534.9:c.1892-18T>C MANE Select	ENSP00000261534.4:n.1892-18T>C
ENST00000261534.8:c.1892-18T>C	ENSP00000261534.4:n.1892-18T>C
ENST00000452340.7:n.2850T>C
ENST00000554767.5:n.2678-18T>C
ENST00000555134.1:n.817-18T>C
ENST00000555710.1:c.235T>C	ENSP00000451730.1:n.235T>C
ENST00000556171.1:c.484-18T>C
ENST00000556394.1:c.88-379T>C
ENST00000556446.1:n.175T>C
ENST00000602717.5:c.107-18T>C	ENSP00000487704.1:n.107-18T>C
NM_013382.5:c.1892-18T>C , LRG_844t1:c.1892-18T>C	NP_037514.2:n.1892-18T>C
XM_011536675.1:c.2081-18T>C	XP_011534977.1:n.2081-18T>C
XM_011536676.1:c.1748-18T>C	XP_011534978.1:n.1748-18T>C
XM_011536677.1:c.1622-18T>C	XP_011534979.1:n.1622-18T>C
XM_011536678.1:c.*611T>C	XP_011534980.1:n.*611T>C
XM_011536679.1:c.1175-18T>C	XP_011534981.1:n.1175-18T>C
XR_943416.1:n.2145-18T>C
XM_011536675.2:c.2081-18T>C	XP_011534977.1:n.2081-18T>C
XM_011536676.2:c.1748-18T>C	XP_011534978.1:n.1748-18T>C
XM_011536677.3:c.1622-18T>C	XP_011534979.1:n.1622-18T>C
XR_001750279.1:n.2178-18T>C
XR_001750282.1:n.2831-18T>C
XR_943416.3:n.2143-18T>C
NM_013382.6:c.1892-18T>C	NP_037514.2:n.1892-18T>C
NM_013382.7:c.1892-18T>C MANE Select	NP_037514.2:n.1892-18T>C