Canonical Allele Identifier: CA390520909

Gene: POMT2

Linked Data

• COSMIC: COSM3793884
• MyVariant Identifiers: chr14:g.77772681C>G (hg19) ; chr14:g.77306338C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306338C>G , CM000676.2:g.77306338C>G	GRCh38
NC_000014.8:g.77772681C>G , CM000676.1:g.77772681C>G	GRCh37
NC_000014.7:g.76842434C>G	NCBI36
NG_008897.1:g.19545G>C , LRG_844:g.19545G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.166G>C
ENST00000556394.2:c.249-1538G>C	ENSP00000451967.2:n.249-1538G>C
ENST00000556880.6:n.370G>C
ENST00000682247.1:c.437G>C	ENSP00000507213.1:p.Gly146Ala
ENST00000682382.1:c.385G>C
ENST00000682395.1:n.166G>C
ENST00000682459.1:n.102+64G>C
ENST00000682467.1:c.437G>C	ENSP00000508062.1:p.Gly146Ala
ENST00000682795.1:c.437G>C	ENSP00000507574.1:p.Gly146Ala
ENST00000682895.1:n.153G>C
ENST00000682955.1:n.102+64G>C
ENST00000683188.1:c.232G>C
ENST00000683380.1:n.102+64G>C
ENST00000683828.1:c.306G>C
ENST00000684066.1:n.132G>C
ENST00000684102.1:n.183G>C
ENST00000684259.1:n.288G>C
ENST00000684479.1:n.104G>C
ENST00000684549.1:n.166G>C
ENST00000684600.1:c.251G>C
ENST00000684670.1:n.104G>C
ENST00000684746.1:n.134G>C
ENST00000261534.9:c.437G>C MANE Select	ENSP00000261534.4:p.Gly146Ala
ENST00000261534.8:c.437G>C	ENSP00000261534.4:p.Gly146Ala
ENST00000452340.7:n.460G>C
ENST00000553863.5:n.102+64G>C
ENST00000554948.1:c.164G>C	ENSP00000452060.1:p.Gly55Ala
ENST00000555675.5:n.153G>C
ENST00000555788.5:n.271G>C
ENST00000556326.5:c.*103G>C	ENSP00000450630.1:n.*103G>C
ENST00000556880.5:n.370G>C
ENST00000557525.1:n.527G>C
NM_013382.5:c.437G>C , LRG_844t1:c.437G>C	NP_037514.2:p.Gly146Ala
XM_011536675.1:c.437G>C	XP_011534977.1:p.Gly146Ala
XM_011536676.1:c.104G>C	XP_011534978.1:p.Gly35Ala
XM_011536677.1:c.437G>C	XP_011534979.1:p.Gly146Ala
XM_011536678.1:c.437G>C	XP_011534980.1:p.Gly146Ala
XM_011536680.1:c.437G>C	XP_011534982.1:p.Gly146Ala
XR_943416.1:n.640G>C
XM_011536675.2:c.437G>C	XP_011534977.1:p.Gly146Ala
XM_011536676.2:c.104G>C	XP_011534978.1:p.Gly35Ala
XM_011536677.3:c.437G>C	XP_011534979.1:p.Gly146Ala
XR_001750279.1:n.637G>C
XR_001750282.1:n.641G>C
XR_943416.3:n.638G>C
NM_013382.6:c.437G>C	NP_037514.2:p.Gly146Ala
NM_013382.7:c.437G>C MANE Select	NP_037514.2:p.Gly146Ala