Canonical Allele Identifier: CA7285569

Gene: POMT2

Linked Data

• ClinVar Variation Id: 1133075
• ClinVar RCV Id: RCV001467521
• dbSNP Id: rs371121278
• ExAC: 14:77745065 C / G
• gnomAD v2: 14-77745065-C-G
• gnomAD v3: 14-77278722-C-G
• gnomAD v4: 14-77278722-C-G
• MyVariant Identifiers: chr14:g.77745065C>G (hg19) ; chr14:g.77278722C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278722C>G , CM000676.2:g.77278722C>G	GRCh38
NC_000014.8:g.77745065C>G , CM000676.1:g.77745065C>G	GRCh37
NC_000014.7:g.76814818C>G	NCBI36
NG_008897.1:g.47161G>C , LRG_844:g.47161G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.957+7G>C
ENST00000556394.2:c.1573+7G>C	ENSP00000451967.2:n.1573+7G>C
ENST00000682247.1:c.2021+7G>C	ENSP00000507213.1:n.2021+7G>C
ENST00000682395.1:n.2496+7G>C
ENST00000682459.1:n.1735+7G>C
ENST00000682467.1:c.1892-214G>C	ENSP00000508062.1:n.1892-214G>C
ENST00000682795.1:c.2179+7G>C	ENSP00000507574.1:n.2179+7G>C
ENST00000682895.1:n.1748+7G>C
ENST00000682955.1:n.1606+7G>C
ENST00000683188.1:c.2293+7G>C
ENST00000683380.1:n.1696+7G>C
ENST00000683907.1:c.297+7G>C	ENSP00000507754.1:n.297+7G>C
ENST00000684259.1:n.3799+7G>C
ENST00000684538.1:n.1411+7G>C
ENST00000684549.1:n.1583+7G>C
ENST00000261534.9:c.2032+7G>C MANE Select	ENSP00000261534.4:n.2032+7G>C
ENST00000261534.8:c.2032+7G>C	ENSP00000261534.4:n.2032+7G>C
ENST00000452340.7:n.3008+7G>C
ENST00000554767.5:n.2818+7G>C
ENST00000555710.1:c.393+7G>C	ENSP00000451730.1:n.393+7G>C
ENST00000556394.1:c.88-214G>C
ENST00000556446.1:n.333+7G>C
ENST00000602717.5:c.247+7G>C	ENSP00000487704.1:n.247+7G>C
NM_013382.5:c.2032+7G>C , LRG_844t1:c.2032+7G>C	NP_037514.2:n.2032+7G>C
XM_011536675.1:c.2221+7G>C	XP_011534977.1:n.2221+7G>C
XM_011536676.1:c.1888+7G>C	XP_011534978.1:n.1888+7G>C
XM_011536677.1:c.1762+7G>C	XP_011534979.1:n.1762+7G>C
XM_011536679.1:c.1315+7G>C	XP_011534981.1:n.1315+7G>C
XR_943416.1:n.2285+7G>C
XM_011536675.2:c.2221+7G>C	XP_011534977.1:n.2221+7G>C
XM_011536676.2:c.1888+7G>C	XP_011534978.1:n.1888+7G>C
XM_011536677.3:c.1762+7G>C	XP_011534979.1:n.1762+7G>C
XR_001750279.1:n.2318+7G>C
XR_001750282.1:n.2971+7G>C
XR_943416.3:n.2283+7G>C
NM_013382.6:c.2032+7G>C	NP_037514.2:n.2032+7G>C
NM_013382.7:c.2032+7G>C MANE Select	NP_037514.2:n.2032+7G>C