Canonical Allele Identifier: CA390513694

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278509-C-A
• MyVariant Identifiers: chr14:g.77744852C>A (hg19) ; chr14:g.77278509C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278509C>A , CM000676.2:g.77278509C>A	GRCh38
NC_000014.8:g.77744852C>A , CM000676.1:g.77744852C>A	GRCh37
NC_000014.7:g.76814605C>A	NCBI36
NG_008897.1:g.47374G>T , LRG_844:g.47374G>T

Transcript Alleles

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