Canonical Allele Identifier: CA708706754

Gene: POMT2

Linked Data

• dbSNP Id: rs1194492154
• MyVariant Identifiers: chr14:g.77744959G>A (hg19) ; chr14:g.77278616G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278616G>A , CM000676.2:g.77278616G>A	GRCh38
NC_000014.8:g.77744959G>A , CM000676.1:g.77744959G>A	GRCh37
NC_000014.7:g.76814712G>A	NCBI36
NG_008897.1:g.47267C>T , LRG_844:g.47267C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-108C>T
ENST00000556394.2:c.1574-108C>T	ENSP00000451967.2:n.1574-108C>T
ENST00000682247.1:c.2022-108C>T	ENSP00000507213.1:n.2022-108C>T
ENST00000682395.1:n.2497-108C>T
ENST00000682459.1:n.1736-108C>T
ENST00000682467.1:c.1892-108C>T	ENSP00000508062.1:n.1892-108C>T
ENST00000682795.1:c.2180-108C>T	ENSP00000507574.1:n.2180-108C>T
ENST00000682895.1:n.1749-108C>T
ENST00000682955.1:n.1607-108C>T
ENST00000683188.1:c.2294-108C>T
ENST00000683380.1:n.1697-108C>T
ENST00000683907.1:c.298-108C>T	ENSP00000507754.1:n.298-108C>T
ENST00000684259.1:n.3800-108C>T
ENST00000684538.1:n.1412-108C>T
ENST00000684549.1:n.1584-108C>T
ENST00000261534.9:c.2033-108C>T MANE Select	ENSP00000261534.4:n.2033-108C>T
ENST00000261534.8:c.2033-108C>T	ENSP00000261534.4:n.2033-108C>T
ENST00000452340.7:n.3009-108C>T
ENST00000554767.5:n.2819-108C>T
ENST00000555710.1:c.394-108C>T	ENSP00000451730.1:n.394-108C>T
ENST00000556394.1:c.88-108C>T
ENST00000556446.1:n.334-108C>T
ENST00000602717.5:c.248-108C>T	ENSP00000487704.1:n.248-108C>T
NM_013382.5:c.2033-108C>T , LRG_844t1:c.2033-108C>T	NP_037514.2:n.2033-108C>T
XM_011536675.1:c.2222-108C>T	XP_011534977.1:n.2222-108C>T
XM_011536676.1:c.1889-108C>T	XP_011534978.1:n.1889-108C>T
XM_011536677.1:c.1763-108C>T	XP_011534979.1:n.1763-108C>T
XM_011536679.1:c.1316-108C>T	XP_011534981.1:n.1316-108C>T
XR_943416.1:n.2286-108C>T
XM_011536675.2:c.2222-108C>T	XP_011534977.1:n.2222-108C>T
XM_011536676.2:c.1889-108C>T	XP_011534978.1:n.1889-108C>T
XM_011536677.3:c.1763-108C>T	XP_011534979.1:n.1763-108C>T
XR_001750279.1:n.2319-108C>T
XR_001750282.1:n.2972-108C>T
XR_943416.3:n.2284-108C>T
NM_013382.6:c.2033-108C>T	NP_037514.2:n.2033-108C>T
NM_013382.7:c.2033-108C>T MANE Select	NP_037514.2:n.2033-108C>T