Canonical Allele Identifier: CA263817208

Gene: POMT2

Linked Data

• dbSNP Id: rs949874294
• gnomAD v2: 14-77744992-A-G
• gnomAD v3: 14-77278649-A-G
• gnomAD v4: 14-77278649-A-G
• MyVariant Identifiers: chr14:g.77744992A>G (hg19) ; chr14:g.77278649A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278649A>G , CM000676.2:g.77278649A>G	GRCh38
NC_000014.8:g.77744992A>G , CM000676.1:g.77744992A>G	GRCh37
NC_000014.7:g.76814745A>G	NCBI36
NG_008897.1:g.47234T>C , LRG_844:g.47234T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.957+80T>C
ENST00000556394.2:c.1573+80T>C	ENSP00000451967.2:n.1573+80T>C
ENST00000682247.1:c.2021+80T>C	ENSP00000507213.1:n.2021+80T>C
ENST00000682395.1:n.2496+80T>C
ENST00000682459.1:n.1735+80T>C
ENST00000682467.1:c.1892-141T>C	ENSP00000508062.1:n.1892-141T>C
ENST00000682795.1:c.2179+80T>C	ENSP00000507574.1:n.2179+80T>C
ENST00000682895.1:n.1748+80T>C
ENST00000682955.1:n.1606+80T>C
ENST00000683188.1:c.2293+80T>C
ENST00000683380.1:n.1696+80T>C
ENST00000683907.1:c.297+80T>C	ENSP00000507754.1:n.297+80T>C
ENST00000684259.1:n.3799+80T>C
ENST00000684538.1:n.1411+80T>C
ENST00000684549.1:n.1583+80T>C
ENST00000261534.9:c.2032+80T>C MANE Select	ENSP00000261534.4:n.2032+80T>C
ENST00000261534.8:c.2032+80T>C	ENSP00000261534.4:n.2032+80T>C
ENST00000452340.7:n.3008+80T>C
ENST00000554767.5:n.2818+80T>C
ENST00000555710.1:c.393+80T>C	ENSP00000451730.1:n.393+80T>C
ENST00000556394.1:c.88-141T>C
ENST00000556446.1:n.333+80T>C
ENST00000602717.5:c.247+80T>C	ENSP00000487704.1:n.247+80T>C
NM_013382.5:c.2032+80T>C , LRG_844t1:c.2032+80T>C	NP_037514.2:n.2032+80T>C
XM_011536675.1:c.2221+80T>C	XP_011534977.1:n.2221+80T>C
XM_011536676.1:c.1888+80T>C	XP_011534978.1:n.1888+80T>C
XM_011536677.1:c.1762+80T>C	XP_011534979.1:n.1762+80T>C
XM_011536679.1:c.1315+80T>C	XP_011534981.1:n.1315+80T>C
XR_943416.1:n.2285+80T>C
XM_011536675.2:c.2221+80T>C	XP_011534977.1:n.2221+80T>C
XM_011536676.2:c.1888+80T>C	XP_011534978.1:n.1888+80T>C
XM_011536677.3:c.1762+80T>C	XP_011534979.1:n.1762+80T>C
XR_001750279.1:n.2318+80T>C
XR_001750282.1:n.2971+80T>C
XR_943416.3:n.2283+80T>C
NM_013382.6:c.2032+80T>C	NP_037514.2:n.2032+80T>C
NM_013382.7:c.2032+80T>C MANE Select	NP_037514.2:n.2032+80T>C