Canonical Allele Identifier: CA390520388

Gene: POMT2

Linked Data

• dbSNP Id: rs1891029106
• gnomAD v4: 14-77301239-C-G
• MyVariant Identifiers: chr14:g.77767582C>G (hg19) ; chr14:g.77301239C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77301239C>G , CM000676.2:g.77301239C>G	GRCh38
NC_000014.8:g.77767582C>G , CM000676.1:g.77767582C>G	GRCh37
NC_000014.7:g.76837335C>G	NCBI36
NG_008897.1:g.24644G>C , LRG_844:g.24644G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.120G>C	ENSP00000508202.1:p.Leu40=
ENST00000556394.2:c.358-1678G>C	ENSP00000451967.2:n.358-1678G>C
ENST00000556880.6:n.691G>C
ENST00000557289.2:c.11G>C
ENST00000682247.1:c.667G>C	ENSP00000507213.1:p.Ala223Pro
ENST00000682382.1:c.496-2468G>C
ENST00000682395.1:n.396G>C
ENST00000682459.1:n.331G>C
ENST00000682467.1:c.667G>C	ENSP00000508062.1:p.Ala223Pro
ENST00000682795.1:c.667G>C	ENSP00000507574.1:p.Ala223Pro
ENST00000682895.1:n.383G>C
ENST00000682955.1:n.212-2468G>C
ENST00000683167.1:c.11G>C
ENST00000683188.1:c.343-1678G>C
ENST00000683300.1:c.109+3453G>C	ENSP00000507630.1:n.109+3453G>C
ENST00000683328.1:c.109+3453G>C	ENSP00000508096.1:n.109+3453G>C
ENST00000683380.1:n.331G>C
ENST00000683398.1:c.11G>C
ENST00000683551.1:c.109+1596G>C
ENST00000683828.1:c.525+1596G>C
ENST00000684259.1:n.518G>C
ENST00000684549.1:n.368-1678G>C
ENST00000684554.1:c.11G>C
ENST00000261534.9:c.667G>C MANE Select	ENSP00000261534.4:p.Ala223Pro
ENST00000261534.8:c.667G>C	ENSP00000261534.4:p.Ala223Pro
ENST00000452340.7:n.690G>C
ENST00000553863.5:n.331G>C
ENST00000554948.1:c.394G>C	ENSP00000452060.1:p.Ala132Pro
ENST00000555675.5:n.383G>C
ENST00000556326.5:c.*333G>C	ENSP00000450630.1:n.*333G>C
ENST00000557289.1:c.56-1678G>C	ENSP00000451115.1:n.56-1678G>C
NM_013382.5:c.667G>C , LRG_844t1:c.667G>C	NP_037514.2:p.Ala223Pro
XM_011536675.1:c.667G>C	XP_011534977.1:p.Ala223Pro
XM_011536676.1:c.334G>C	XP_011534978.1:p.Ala112Pro
XM_011536677.1:c.547+3453G>C	XP_011534979.1:n.547+3453G>C
XM_011536678.1:c.667G>C	XP_011534980.1:p.Ala223Pro
XM_011536679.1:c.-90-1678G>C	XP_011534981.1:n.-90-1678G>C
XM_011536680.1:c.667G>C	XP_011534982.1:p.Ala223Pro
XR_943416.1:n.870G>C
XM_011536675.2:c.667G>C	XP_011534977.1:p.Ala223Pro
XM_011536676.2:c.334G>C	XP_011534978.1:p.Ala112Pro
XM_011536677.3:c.547+3453G>C	XP_011534979.1:n.547+3453G>C
XR_001750279.1:n.867G>C
XR_001750282.1:n.871G>C
XR_943416.3:n.868G>C
NM_013382.6:c.667G>C	NP_037514.2:p.Ala223Pro
NM_013382.7:c.667G>C MANE Select	NP_037514.2:p.Ala223Pro