Canonical Allele Identifier: CA390520980

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77772710A>C (hg19) ; chr14:g.77306367A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77306367A>C , CM000676.2:g.77306367A>C	GRCh38
NC_000014.8:g.77772710A>C , CM000676.1:g.77772710A>C	GRCh37
NC_000014.7:g.76842463A>C	NCBI36
NG_008897.1:g.19516T>G , LRG_844:g.19516T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555675.6:n.137T>G
ENST00000556394.2:c.249-1567T>G	ENSP00000451967.2:n.249-1567T>G
ENST00000556880.6:n.341T>G
ENST00000682247.1:c.408T>G	ENSP00000507213.1:p.Tyr136Ter
ENST00000682382.1:c.356T>G
ENST00000682395.1:n.137T>G
ENST00000682459.1:n.102+35T>G
ENST00000682467.1:c.408T>G	ENSP00000508062.1:p.Tyr136Ter
ENST00000682795.1:c.408T>G	ENSP00000507574.1:p.Tyr136Ter
ENST00000682895.1:n.124T>G
ENST00000682955.1:n.102+35T>G
ENST00000683188.1:c.203T>G
ENST00000683380.1:n.102+35T>G
ENST00000683828.1:c.277T>G
ENST00000684066.1:n.103T>G
ENST00000684102.1:n.154T>G
ENST00000684259.1:n.259T>G
ENST00000684479.1:n.75T>G
ENST00000684549.1:n.137T>G
ENST00000684600.1:c.222T>G
ENST00000684670.1:n.75T>G
ENST00000684746.1:n.105T>G
ENST00000261534.9:c.408T>G MANE Select	ENSP00000261534.4:p.Tyr136Ter
ENST00000261534.8:c.408T>G	ENSP00000261534.4:p.Tyr136Ter
ENST00000452340.7:n.431T>G
ENST00000553863.5:n.102+35T>G
ENST00000554948.1:c.135T>G	ENSP00000452060.1:p.Tyr45Ter
ENST00000555675.5:n.124T>G
ENST00000555788.5:n.242T>G
ENST00000556326.5:c.*74T>G	ENSP00000450630.1:n.*74T>G
ENST00000556880.5:n.341T>G
ENST00000557525.1:n.498T>G
NM_013382.5:c.408T>G , LRG_844t1:c.408T>G	NP_037514.2:p.Tyr136Ter
XM_011536675.1:c.408T>G	XP_011534977.1:p.Tyr136Ter
XM_011536676.1:c.75T>G	XP_011534978.1:p.Tyr25Ter
XM_011536677.1:c.408T>G	XP_011534979.1:p.Tyr136Ter
XM_011536678.1:c.408T>G	XP_011534980.1:p.Tyr136Ter
XM_011536680.1:c.408T>G	XP_011534982.1:p.Tyr136Ter
XR_943416.1:n.611T>G
XM_011536675.2:c.408T>G	XP_011534977.1:p.Tyr136Ter
XM_011536676.2:c.75T>G	XP_011534978.1:p.Tyr25Ter
XM_011536677.3:c.408T>G	XP_011534979.1:p.Tyr136Ter
XR_001750279.1:n.608T>G
XR_001750282.1:n.612T>G
XR_943416.3:n.609T>G
NM_013382.6:c.408T>G	NP_037514.2:p.Tyr136Ter
NM_013382.7:c.408T>G MANE Select	NP_037514.2:p.Tyr136Ter