Canonical Allele Identifier: CA15828857

Gene: POMT2

Linked Data

• ClinVar Variation Id: 674395
• ClinVar RCV Id: RCV000833712
• dbSNP Id: rs3815627
• gnomAD v2: 14-77772599-G-A
• gnomAD v3: 14-77306256-G-A
• gnomAD v4: 14-77306256-G-A
• MyVariant Identifiers: chr14:g.77772599G>A (hg19) ; chr14:g.77306256G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306256G>A , CM000676.2:g.77306256G>A	GRCh38
NC_000014.8:g.77772599G>A , CM000676.1:g.77772599G>A	GRCh37
NC_000014.7:g.76842352G>A	NCBI36
NG_008897.1:g.19627C>T , LRG_844:g.19627C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000555675.6:n.248C>T
ENST00000556394.2:c.249-1456C>T	ENSP00000451967.2:n.249-1456C>T
ENST00000556880.6:n.452C>T
ENST00000682247.1:c.438+81C>T	ENSP00000507213.1:n.438+81C>T
ENST00000682382.1:c.386+81C>T
ENST00000682395.1:n.167+81C>T
ENST00000682459.1:n.102+146C>T
ENST00000682467.1:c.438+81C>T	ENSP00000508062.1:n.438+81C>T
ENST00000682795.1:c.438+81C>T	ENSP00000507574.1:n.438+81C>T
ENST00000682895.1:n.154+81C>T
ENST00000682955.1:n.102+146C>T
ENST00000683188.1:c.233+81C>T
ENST00000683380.1:n.102+146C>T
ENST00000683828.1:c.307+81C>T
ENST00000684102.1:n.265C>T
ENST00000684259.1:n.289+81C>T
ENST00000684479.1:n.105+81C>T
ENST00000684549.1:n.248C>T
ENST00000684600.1:c.252+81C>T
ENST00000684670.1:n.105+81C>T
ENST00000261534.9:c.438+81C>T MANE Select	ENSP00000261534.4:n.438+81C>T
ENST00000261534.8:c.438+81C>T	ENSP00000261534.4:n.438+81C>T
ENST00000452340.7:n.461+81C>T
ENST00000553863.5:n.102+146C>T
ENST00000554948.1:c.165+81C>T	ENSP00000452060.1:n.165+81C>T
ENST00000555675.5:n.154+81C>T
ENST00000555788.5:n.353C>T
ENST00000556326.5:c.*104+81C>T	ENSP00000450630.1:n.*104+81C>T
ENST00000556880.5:n.452C>T
ENST00000557525.1:n.528+81C>T
NM_013382.5:c.438+81C>T , LRG_844t1:c.438+81C>T	NP_037514.2:n.438+81C>T
XM_011536675.1:c.438+81C>T	XP_011534977.1:n.438+81C>T
XM_011536676.1:c.105+81C>T	XP_011534978.1:n.105+81C>T
XM_011536677.1:c.438+81C>T	XP_011534979.1:n.438+81C>T
XM_011536678.1:c.438+81C>T	XP_011534980.1:n.438+81C>T
XM_011536679.1:c.-210C>T	XP_011534981.1:n.-210C>T
XM_011536680.1:c.438+81C>T	XP_011534982.1:n.438+81C>T
XR_943416.1:n.641+81C>T
XM_011536675.2:c.438+81C>T	XP_011534977.1:n.438+81C>T
XM_011536676.2:c.105+81C>T	XP_011534978.1:n.105+81C>T
XM_011536677.3:c.438+81C>T	XP_011534979.1:n.438+81C>T
XR_001750279.1:n.638+81C>T
XR_001750282.1:n.642+81C>T
XR_943416.3:n.639+81C>T
NM_013382.6:c.438+81C>T	NP_037514.2:n.438+81C>T
NM_013382.7:c.438+81C>T MANE Select	NP_037514.2:n.438+81C>T