Canonical Allele Identifier: CA263817135

Gene: POMT2

Linked Data

• dbSNP Id: rs1016965431
• gnomAD v4: 14-77278597-G-A
• MyVariant Identifiers: chr14:g.77744940G>A (hg19) ; chr14:g.77278597G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278597G>A , CM000676.2:g.77278597G>A	GRCh38
NC_000014.8:g.77744940G>A , CM000676.1:g.77744940G>A	GRCh37
NC_000014.7:g.76814693G>A	NCBI36
NG_008897.1:g.47286C>T , LRG_844:g.47286C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-89C>T
ENST00000556394.2:c.1574-89C>T	ENSP00000451967.2:n.1574-89C>T
ENST00000682247.1:c.2022-89C>T	ENSP00000507213.1:n.2022-89C>T
ENST00000682395.1:n.2497-89C>T
ENST00000682459.1:n.1736-89C>T
ENST00000682467.1:c.1892-89C>T	ENSP00000508062.1:n.1892-89C>T
ENST00000682795.1:c.2180-89C>T	ENSP00000507574.1:n.2180-89C>T
ENST00000682895.1:n.1749-89C>T
ENST00000682955.1:n.1607-89C>T
ENST00000683188.1:c.2294-89C>T
ENST00000683380.1:n.1697-89C>T
ENST00000683907.1:c.298-89C>T	ENSP00000507754.1:n.298-89C>T
ENST00000684259.1:n.3800-89C>T
ENST00000684538.1:n.1412-89C>T
ENST00000684549.1:n.1584-89C>T
ENST00000261534.9:c.2033-89C>T MANE Select	ENSP00000261534.4:n.2033-89C>T
ENST00000261534.8:c.2033-89C>T	ENSP00000261534.4:n.2033-89C>T
ENST00000452340.7:n.3009-89C>T
ENST00000554767.5:n.2819-89C>T
ENST00000555710.1:c.394-89C>T	ENSP00000451730.1:n.394-89C>T
ENST00000556394.1:c.88-89C>T
ENST00000556446.1:n.334-89C>T
ENST00000602717.5:c.248-89C>T	ENSP00000487704.1:n.248-89C>T
NM_013382.5:c.2033-89C>T , LRG_844t1:c.2033-89C>T	NP_037514.2:n.2033-89C>T
XM_011536675.1:c.2222-89C>T	XP_011534977.1:n.2222-89C>T
XM_011536676.1:c.1889-89C>T	XP_011534978.1:n.1889-89C>T
XM_011536677.1:c.1763-89C>T	XP_011534979.1:n.1763-89C>T
XM_011536679.1:c.1316-89C>T	XP_011534981.1:n.1316-89C>T
XR_943416.1:n.2286-89C>T
XM_011536675.2:c.2222-89C>T	XP_011534977.1:n.2222-89C>T
XM_011536676.2:c.1889-89C>T	XP_011534978.1:n.1889-89C>T
XM_011536677.3:c.1763-89C>T	XP_011534979.1:n.1763-89C>T
XR_001750279.1:n.2319-89C>T
XR_001750282.1:n.2972-89C>T
XR_943416.3:n.2284-89C>T
NM_013382.6:c.2033-89C>T	NP_037514.2:n.2033-89C>T
NM_013382.7:c.2033-89C>T MANE Select	NP_037514.2:n.2033-89C>T