Canonical Allele Identifier: CA708706740

Gene: POMT2

Linked Data

• dbSNP Id: rs1168282633
• gnomAD v4: 14-77278595-CAG-C
• MyVariant Identifiers: chr14:g.77744939_77744940del (hg19) ; chr14:g.77278596_77278597del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278600_77278601del , CM000676.2:g.77278600_77278601del	GRCh38
NC_000014.8:g.77744943_77744944del , CM000676.1:g.77744943_77744944del	GRCh37
NC_000014.7:g.76814696_76814697del	NCBI36
NG_008897.1:g.47286_47287del , LRG_844:g.47286_47287del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-89_958-88del
ENST00000556394.2:c.1574-89_1574-88del	ENSP00000451967.2:n.1574-89_1574-88del
ENST00000682247.1:c.2022-89_2022-88del	ENSP00000507213.1:n.2022-89_2022-88del
ENST00000682395.1:n.2497-89_2497-88del
ENST00000682459.1:n.1736-89_1736-88del
ENST00000682467.1:c.1892-89_1892-88del	ENSP00000508062.1:n.1892-89_1892-88del
ENST00000682795.1:c.2180-89_2180-88del	ENSP00000507574.1:n.2180-89_2180-88del
ENST00000682895.1:n.1749-89_1749-88del
ENST00000682955.1:n.1607-89_1607-88del
ENST00000683188.1:c.2294-89_2294-88del
ENST00000683380.1:n.1697-89_1697-88del
ENST00000683907.1:c.298-89_298-88del	ENSP00000507754.1:n.298-89_298-88del
ENST00000684259.1:n.3800-89_3800-88del
ENST00000684538.1:n.1412-89_1412-88del
ENST00000684549.1:n.1584-89_1584-88del
ENST00000261534.9:c.2033-89_2033-88del MANE Select	ENSP00000261534.4:n.2033-89_2033-88del
ENST00000261534.8:c.2033-89_2033-88del	ENSP00000261534.4:n.2033-89_2033-88del
ENST00000452340.7:n.3009-89_3009-88del
ENST00000554767.5:n.2819-89_2819-88del
ENST00000555710.1:c.394-89_394-88del	ENSP00000451730.1:n.394-89_394-88del
ENST00000556394.1:c.88-89_88-88del
ENST00000556446.1:n.334-89_334-88del
ENST00000602717.5:c.248-89_248-88del	ENSP00000487704.1:n.248-89_248-88del
NM_013382.5:c.2033-89_2033-88del , LRG_844t1:c.2033-89_2033-88del	NP_037514.2:n.2033-89_2033-88del
XM_011536675.1:c.2222-89_2222-88del	XP_011534977.1:n.2222-89_2222-88del
XM_011536676.1:c.1889-89_1889-88del	XP_011534978.1:n.1889-89_1889-88del
XM_011536677.1:c.1763-89_1763-88del	XP_011534979.1:n.1763-89_1763-88del
XM_011536679.1:c.1316-89_1316-88del	XP_011534981.1:n.1316-89_1316-88del
XR_943416.1:n.2286-89_2286-88del
XM_011536675.2:c.2222-89_2222-88del	XP_011534977.1:n.2222-89_2222-88del
XM_011536676.2:c.1889-89_1889-88del	XP_011534978.1:n.1889-89_1889-88del
XM_011536677.3:c.1763-89_1763-88del	XP_011534979.1:n.1763-89_1763-88del
XR_001750279.1:n.2319-89_2319-88del
XR_001750282.1:n.2972-89_2972-88del
XR_943416.3:n.2284-89_2284-88del
NM_013382.6:c.2033-89_2033-88del	NP_037514.2:n.2033-89_2033-88del
NM_013382.7:c.2033-89_2033-88del MANE Select	NP_037514.2:n.2033-89_2033-88del