Canonical Allele Identifier: CA615398752

Gene: POMT2

Linked Data

• dbSNP Id: rs1566642632
• gnomAD v2: 14-77744857-GGA-G
• gnomAD v4: 14-77278514-GGA-G
• MyVariant Identifiers: chr14:g.77744858_77744859del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278518_77278519del , CM000676.2:g.77278518_77278519del	GRCh38
NC_000014.8:g.77744861_77744862del , CM000676.1:g.77744861_77744862del	GRCh37
NC_000014.7:g.76814614_76814615del	NCBI36
NG_008897.1:g.47367_47368del , LRG_844:g.47367_47368del

Transcript Alleles

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