Canonical Allele Identifier: CA2625847634

Gene: POMT2

Linked Data

• gnomAD v4: 14-77306261-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306261G>A , CM000676.2:g.77306261G>A	GRCh38
NC_000014.8:g.77772604G>A , CM000676.1:g.77772604G>A	GRCh37
NC_000014.7:g.76842357G>A	NCBI36
NG_008897.1:g.19622C>T , LRG_844:g.19622C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555675.6:n.243C>T
ENST00000556394.2:c.249-1461C>T	ENSP00000451967.2:n.249-1461C>T
ENST00000556880.6:n.447C>T
ENST00000682247.1:c.438+76C>T	ENSP00000507213.1:n.438+76C>T
ENST00000682382.1:c.386+76C>T
ENST00000682395.1:n.167+76C>T
ENST00000682459.1:n.102+141C>T
ENST00000682467.1:c.438+76C>T	ENSP00000508062.1:n.438+76C>T
ENST00000682795.1:c.438+76C>T	ENSP00000507574.1:n.438+76C>T
ENST00000682895.1:n.154+76C>T
ENST00000682955.1:n.102+141C>T
ENST00000683188.1:c.233+76C>T
ENST00000683380.1:n.102+141C>T
ENST00000683828.1:c.307+76C>T
ENST00000684102.1:n.260C>T
ENST00000684259.1:n.289+76C>T
ENST00000684479.1:n.105+76C>T
ENST00000684549.1:n.243C>T
ENST00000684600.1:c.252+76C>T
ENST00000684670.1:n.105+76C>T
ENST00000261534.9:c.438+76C>T MANE Select	ENSP00000261534.4:n.438+76C>T
ENST00000261534.8:c.438+76C>T	ENSP00000261534.4:n.438+76C>T
ENST00000452340.7:n.461+76C>T
ENST00000553863.5:n.102+141C>T
ENST00000554948.1:c.165+76C>T	ENSP00000452060.1:n.165+76C>T
ENST00000555675.5:n.154+76C>T
ENST00000555788.5:n.348C>T
ENST00000556326.5:c.*104+76C>T	ENSP00000450630.1:n.*104+76C>T
ENST00000556880.5:n.447C>T
ENST00000557525.1:n.528+76C>T
NM_013382.5:c.438+76C>T , LRG_844t1:c.438+76C>T	NP_037514.2:n.438+76C>T
XM_011536675.1:c.438+76C>T	XP_011534977.1:n.438+76C>T
XM_011536676.1:c.105+76C>T	XP_011534978.1:n.105+76C>T
XM_011536677.1:c.438+76C>T	XP_011534979.1:n.438+76C>T
XM_011536678.1:c.438+76C>T	XP_011534980.1:n.438+76C>T
XM_011536679.1:c.-215C>T	XP_011534981.1:n.-215C>T
XM_011536680.1:c.438+76C>T	XP_011534982.1:n.438+76C>T
XR_943416.1:n.641+76C>T
XM_011536675.2:c.438+76C>T	XP_011534977.1:n.438+76C>T
XM_011536676.2:c.105+76C>T	XP_011534978.1:n.105+76C>T
XM_011536677.3:c.438+76C>T	XP_011534979.1:n.438+76C>T
XR_001750279.1:n.638+76C>T
XR_001750282.1:n.642+76C>T
XR_943416.3:n.639+76C>T
NM_013382.6:c.438+76C>T	NP_037514.2:n.438+76C>T
NM_013382.7:c.438+76C>T MANE Select	NP_037514.2:n.438+76C>T