Canonical Allele Identifier: CA615199197

Gene: POMT2

Linked Data

• dbSNP Id: rs1188069514
• gnomAD v2: 14-77745497-C-CACTCCCTA
• gnomAD v3: 14-77279154-C-CACTCCCTA
• gnomAD v4: 14-77279154-C-CACTCCCTA
• MyVariant Identifiers: chr14:g.77745497_77745498insACTCCCTA (hg19) ; chr14:g.77279154_77279155insACTCCCTA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77279155_77279162dup , CM000676.2:g.77279155_77279162dup	GRCh38
NC_000014.8:g.77745498_77745505dup , CM000676.1:g.77745498_77745505dup	GRCh37
NC_000014.7:g.76815251_76815258dup	NCBI36
NG_008897.1:g.46721_46728dup , LRG_844:g.46721_46728dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.817-293_817-286dup
ENST00000556394.2:c.1433-293_1433-286dup	ENSP00000451967.2:n.1433-293_1433-286dup
ENST00000682128.1:c.193-293_193-286dup	ENSP00000506976.1:n.193-293_193-286dup
ENST00000682247.1:c.1892-304_1892-297dup	ENSP00000507213.1:n.1892-304_1892-297dup
ENST00000682395.1:n.2356-293_2356-286dup
ENST00000682459.1:n.1595-293_1595-286dup
ENST00000682467.1:c.1892-654_1892-647dup	ENSP00000508062.1:n.1892-654_1892-647dup
ENST00000682615.1:n.246-293_246-286dup
ENST00000682795.1:c.2039-293_2039-286dup	ENSP00000507574.1:n.2039-293_2039-286dup
ENST00000682895.1:n.1608-293_1608-286dup
ENST00000682955.1:n.1466-293_1466-286dup
ENST00000683095.1:c.298-293_298-286dup	ENSP00000508040.1:n.298-293_298-286dup
ENST00000683188.1:c.2153-293_2153-286dup
ENST00000683380.1:n.1556-293_1556-286dup
ENST00000683828.1:c.1601-293_1601-286dup
ENST00000683907.1:c.157-293_157-286dup	ENSP00000507754.1:n.157-293_157-286dup
ENST00000684172.1:c.268-293_268-286dup	ENSP00000508391.1:n.268-293_268-286dup
ENST00000684259.1:n.3366_3373dup
ENST00000684538.1:n.978_985dup
ENST00000684549.1:n.1443-293_1443-286dup
ENST00000261534.9:c.1892-293_1892-286dup MANE Select	ENSP00000261534.4:n.1892-293_1892-286dup
ENST00000261534.8:c.1892-293_1892-286dup	ENSP00000261534.4:n.1892-293_1892-286dup
ENST00000452340.7:n.2575_2582dup
ENST00000554767.5:n.2678-293_2678-286dup
ENST00000555134.1:n.817-293_817-286dup
ENST00000555710.1:c.161-201_161-194dup	ENSP00000451730.1:n.161-201_161-194dup
ENST00000556171.1:c.484-293_484-286dup
ENST00000556394.1:c.88-654_88-647dup
ENST00000602717.5:c.107-293_107-286dup	ENSP00000487704.1:n.107-293_107-286dup
NM_013382.5:c.1892-293_1892-286dup , LRG_844t1:c.1892-293_1892-286dup	NP_037514.2:n.1892-293_1892-286dup
XM_011536675.1:c.2081-293_2081-286dup	XP_011534977.1:n.2081-293_2081-286dup
XM_011536676.1:c.1748-293_1748-286dup	XP_011534978.1:n.1748-293_1748-286dup
XM_011536677.1:c.1622-293_1622-286dup	XP_011534979.1:n.1622-293_1622-286dup
XM_011536678.1:c.*336_*343dup	XP_011534980.1:n.*336_*343dup
XM_011536679.1:c.1175-293_1175-286dup	XP_011534981.1:n.1175-293_1175-286dup
XR_943416.1:n.2145-293_2145-286dup
XM_011536675.2:c.2081-293_2081-286dup	XP_011534977.1:n.2081-293_2081-286dup
XM_011536676.2:c.1748-293_1748-286dup	XP_011534978.1:n.1748-293_1748-286dup
XM_011536677.3:c.1622-293_1622-286dup	XP_011534979.1:n.1622-293_1622-286dup
XR_001750279.1:n.2178-293_2178-286dup
XR_001750282.1:n.2831-293_2831-286dup
XR_943416.3:n.2143-293_2143-286dup
NM_013382.6:c.1892-293_1892-286dup	NP_037514.2:n.1892-293_1892-286dup
NM_013382.7:c.1892-293_1892-286dup MANE Select	NP_037514.2:n.1892-293_1892-286dup