Canonical Allele Identifier: CA390513543

Gene: POMT2

Linked Data

• ClinVar Variation Id: 1310658
• ClinVar RCV Id: RCV001767772
• dbSNP Id: rs1361876642
• gnomAD v3: 14-77278466-A-G
• gnomAD v4: 14-77278466-A-G
• MyVariant Identifiers: chr14:g.77744809A>G (hg19) ; chr14:g.77278466A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278466A>G , CM000676.2:g.77278466A>G	GRCh38
NC_000014.8:g.77744809A>G , CM000676.1:g.77744809A>G	GRCh37
NC_000014.7:g.76814562A>G	NCBI36
NG_008897.1:g.47417T>C , LRG_844:g.47417T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.1000T>C
ENST00000556394.2:c.1616T>C	ENSP00000451967.2:p.Leu539Ser
ENST00000682247.1:c.2064T>C	ENSP00000507213.1:p.Leu688=
ENST00000682395.1:n.2539T>C
ENST00000682459.1:n.1778T>C
ENST00000682467.1:c.1934T>C	ENSP00000508062.1:p.Leu645Ser
ENST00000682795.1:c.2222T>C	ENSP00000507574.1:p.Leu741Ser
ENST00000682895.1:n.1791T>C
ENST00000682955.1:n.1649T>C
ENST00000683188.1:c.2336T>C
ENST00000683380.1:n.1739T>C
ENST00000683907.1:c.340T>C	ENSP00000507754.1:n.340T>C
ENST00000684259.1:n.3842T>C
ENST00000684538.1:n.1454T>C
ENST00000684549.1:n.1626T>C
ENST00000261534.9:c.2075T>C MANE Select	ENSP00000261534.4:p.Leu692Ser
ENST00000261534.8:c.2075T>C	ENSP00000261534.4:p.Leu692Ser
ENST00000452340.7:n.3051T>C
ENST00000554767.5:n.2861T>C
ENST00000555710.1:c.436T>C	ENSP00000451730.1:n.436T>C
ENST00000556394.1:c.130T>C
ENST00000556446.1:n.376T>C
ENST00000602717.5:c.290T>C	ENSP00000487704.1:p.Leu97Ser
NM_013382.5:c.2075T>C , LRG_844t1:c.2075T>C	NP_037514.2:p.Leu692Ser
XM_011536675.1:c.2264T>C	XP_011534977.1:p.Leu755Ser
XM_011536676.1:c.1931T>C	XP_011534978.1:p.Leu644Ser
XM_011536677.1:c.1805T>C	XP_011534979.1:p.Leu602Ser
XM_011536679.1:c.1358T>C	XP_011534981.1:p.Leu453Ser
XR_943416.1:n.2328T>C
XM_011536675.2:c.2264T>C	XP_011534977.1:p.Leu755Ser
XM_011536676.2:c.1931T>C	XP_011534978.1:p.Leu644Ser
XM_011536677.3:c.1805T>C	XP_011534979.1:p.Leu602Ser
XR_001750279.1:n.2361T>C
XR_001750282.1:n.3014T>C
XR_943416.3:n.2326T>C
NM_013382.6:c.2075T>C	NP_037514.2:p.Leu692Ser
NM_013382.7:c.2075T>C MANE Select	NP_037514.2:p.Leu692Ser