Canonical Allele Identifier: CA2625845384

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278521-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278521A>G , CM000676.2:g.77278521A>G	GRCh38
NC_000014.8:g.77744864A>G , CM000676.1:g.77744864A>G	GRCh37
NC_000014.7:g.76814617A>G	NCBI36
NG_008897.1:g.47362T>C , LRG_844:g.47362T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.958-13T>C
ENST00000556394.2:c.1574-13T>C	ENSP00000451967.2:n.1574-13T>C
ENST00000682247.1:c.2022-13T>C	ENSP00000507213.1:n.2022-13T>C
ENST00000682395.1:n.2497-13T>C
ENST00000682459.1:n.1736-13T>C
ENST00000682467.1:c.1892-13T>C	ENSP00000508062.1:n.1892-13T>C
ENST00000682795.1:c.2180-13T>C	ENSP00000507574.1:n.2180-13T>C
ENST00000682895.1:n.1749-13T>C
ENST00000682955.1:n.1607-13T>C
ENST00000683188.1:c.2294-13T>C
ENST00000683380.1:n.1697-13T>C
ENST00000683907.1:c.298-13T>C	ENSP00000507754.1:n.298-13T>C
ENST00000684259.1:n.3800-13T>C
ENST00000684538.1:n.1412-13T>C
ENST00000684549.1:n.1584-13T>C
ENST00000261534.9:c.2033-13T>C MANE Select	ENSP00000261534.4:n.2033-13T>C
ENST00000261534.8:c.2033-13T>C	ENSP00000261534.4:n.2033-13T>C
ENST00000452340.7:n.3009-13T>C
ENST00000554767.5:n.2819-13T>C
ENST00000555710.1:c.394-13T>C	ENSP00000451730.1:n.394-13T>C
ENST00000556394.1:c.88-13T>C
ENST00000556446.1:n.334-13T>C
ENST00000602717.5:c.248-13T>C	ENSP00000487704.1:n.248-13T>C
NM_013382.5:c.2033-13T>C , LRG_844t1:c.2033-13T>C	NP_037514.2:n.2033-13T>C
XM_011536675.1:c.2222-13T>C	XP_011534977.1:n.2222-13T>C
XM_011536676.1:c.1889-13T>C	XP_011534978.1:n.1889-13T>C
XM_011536677.1:c.1763-13T>C	XP_011534979.1:n.1763-13T>C
XM_011536679.1:c.1316-13T>C	XP_011534981.1:n.1316-13T>C
XR_943416.1:n.2286-13T>C
XM_011536675.2:c.2222-13T>C	XP_011534977.1:n.2222-13T>C
XM_011536676.2:c.1889-13T>C	XP_011534978.1:n.1889-13T>C
XM_011536677.3:c.1763-13T>C	XP_011534979.1:n.1763-13T>C
XR_001750279.1:n.2319-13T>C
XR_001750282.1:n.2972-13T>C
XR_943416.3:n.2284-13T>C
NM_013382.6:c.2033-13T>C	NP_037514.2:n.2033-13T>C
NM_013382.7:c.2033-13T>C MANE Select	NP_037514.2:n.2033-13T>C