Canonical Allele Identifier: CA390513582

Gene: POMT2

Linked Data

• gnomAD v2: 14-77744819-C-G
• gnomAD v4: 14-77278476-C-G
• MyVariant Identifiers: chr14:g.77744819C>G (hg19) ; chr14:g.77278476C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278476C>G , CM000676.2:g.77278476C>G	GRCh38
NC_000014.8:g.77744819C>G , CM000676.1:g.77744819C>G	GRCh37
NC_000014.7:g.76814572C>G	NCBI36
NG_008897.1:g.47407G>C , LRG_844:g.47407G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.990G>C
ENST00000556394.2:c.1606G>C	ENSP00000451967.2:p.Ala536Pro
ENST00000682247.1:c.2054G>C	ENSP00000507213.1:p.Cys685Ser
ENST00000682395.1:n.2529G>C
ENST00000682459.1:n.1768G>C
ENST00000682467.1:c.1924G>C	ENSP00000508062.1:p.Ala642Pro
ENST00000682795.1:c.2212G>C	ENSP00000507574.1:p.Ala738Pro
ENST00000682895.1:n.1781G>C
ENST00000682955.1:n.1639G>C
ENST00000683188.1:c.2326G>C
ENST00000683380.1:n.1729G>C
ENST00000683907.1:c.330G>C	ENSP00000507754.1:n.330G>C
ENST00000684259.1:n.3832G>C
ENST00000684538.1:n.1444G>C
ENST00000684549.1:n.1616G>C
ENST00000261534.9:c.2065G>C MANE Select	ENSP00000261534.4:p.Ala689Pro
ENST00000261534.8:c.2065G>C	ENSP00000261534.4:p.Ala689Pro
ENST00000452340.7:n.3041G>C
ENST00000554767.5:n.2851G>C
ENST00000555710.1:c.426G>C	ENSP00000451730.1:n.426G>C
ENST00000556394.1:c.120G>C
ENST00000556446.1:n.366G>C
ENST00000602717.5:c.280G>C	ENSP00000487704.1:p.Ala94Pro
NM_013382.5:c.2065G>C , LRG_844t1:c.2065G>C	NP_037514.2:p.Ala689Pro
XM_011536675.1:c.2254G>C	XP_011534977.1:p.Ala752Pro
XM_011536676.1:c.1921G>C	XP_011534978.1:p.Ala641Pro
XM_011536677.1:c.1795G>C	XP_011534979.1:p.Ala599Pro
XM_011536679.1:c.1348G>C	XP_011534981.1:p.Ala450Pro
XR_943416.1:n.2318G>C
XM_011536675.2:c.2254G>C	XP_011534977.1:p.Ala752Pro
XM_011536676.2:c.1921G>C	XP_011534978.1:p.Ala641Pro
XM_011536677.3:c.1795G>C	XP_011534979.1:p.Ala599Pro
XR_001750279.1:n.2351G>C
XR_001750282.1:n.3004G>C
XR_943416.3:n.2316G>C
NM_013382.6:c.2065G>C	NP_037514.2:p.Ala689Pro
NM_013382.7:c.2065G>C MANE Select	NP_037514.2:p.Ala689Pro