Canonical Allele Identifier: CA487509479

Gene: POMT2

Linked Data

• gnomAD v4: 14-77278832-G-T
• MyVariant Identifiers: chr14:g.77745175G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278832G>T , CM000676.2:g.77278832G>T	GRCh38
NC_000014.8:g.77745175G>T , CM000676.1:g.77745175G>T	GRCh37
NC_000014.7:g.76814928G>T	NCBI36
NG_008897.1:g.47051C>A , LRG_844:g.47051C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.854C>A
ENST00000556394.2:c.1470C>A	ENSP00000451967.2:p.Val490=
ENST00000682128.1:c.230C>A	ENSP00000506976.1:n.230C>A
ENST00000682247.1:c.1918C>A	ENSP00000507213.1:p.Pro640Thr
ENST00000682395.1:n.2393C>A
ENST00000682459.1:n.1632C>A
ENST00000682467.1:c.1892-324C>A	ENSP00000508062.1:n.1892-324C>A
ENST00000682615.1:n.283C>A
ENST00000682795.1:c.2076C>A	ENSP00000507574.1:p.Val692=
ENST00000682895.1:n.1645C>A
ENST00000682955.1:n.1503C>A
ENST00000683095.1:c.335C>A	ENSP00000508040.1:n.335C>A
ENST00000683188.1:c.2190C>A
ENST00000683380.1:n.1593C>A
ENST00000683828.1:c.1638C>A
ENST00000683907.1:c.194C>A	ENSP00000507754.1:p.Ser65Tyr
ENST00000684172.1:c.305C>A	ENSP00000508391.1:n.305C>A
ENST00000684259.1:n.3696C>A
ENST00000684538.1:n.1308C>A
ENST00000684549.1:n.1480C>A
ENST00000261534.9:c.1929C>A MANE Select	ENSP00000261534.4:p.Val643=
ENST00000261534.8:c.1929C>A	ENSP00000261534.4:p.Val643=
ENST00000452340.7:n.2905C>A
ENST00000554767.5:n.2715C>A
ENST00000555134.1:n.854C>A
ENST00000555710.1:c.290C>A	ENSP00000451730.1:n.290C>A
ENST00000556171.1:c.521C>A
ENST00000556394.1:c.88-324C>A
ENST00000556446.1:n.230C>A
ENST00000602717.5:c.144C>A	ENSP00000487704.1:p.Val48=
NM_013382.5:c.1929C>A , LRG_844t1:c.1929C>A	NP_037514.2:p.Val643=
XM_011536675.1:c.2118C>A	XP_011534977.1:p.Val706=
XM_011536676.1:c.1785C>A	XP_011534978.1:p.Val595=
XM_011536677.1:c.1659C>A	XP_011534979.1:p.Val553=
XM_011536679.1:c.1212C>A	XP_011534981.1:p.Val404=
XR_943416.1:n.2182C>A
XM_011536675.2:c.2118C>A	XP_011534977.1:p.Val706=
XM_011536676.2:c.1785C>A	XP_011534978.1:p.Val595=
XM_011536677.3:c.1659C>A	XP_011534979.1:p.Val553=
XR_001750279.1:n.2215C>A
XR_001750282.1:n.2868C>A
XR_943416.3:n.2180C>A
NM_013382.6:c.1929C>A	NP_037514.2:p.Val643=
NM_013382.7:c.1929C>A MANE Select	NP_037514.2:p.Val643=