Canonical Allele Identifier: CA390520454

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77769195G>C (hg19) ; chr14:g.77302852G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77302852G>C , CM000676.2:g.77302852G>C	GRCh38
NC_000014.8:g.77769195G>C , CM000676.1:g.77769195G>C	GRCh37
NC_000014.7:g.76838948G>C	NCBI36
NG_008897.1:g.23031C>G , LRG_844:g.23031C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000553863.6:c.110-1603C>G	ENSP00000508202.1:n.110-1603C>G
ENST00000556394.2:c.357+1840C>G	ENSP00000451967.2:n.357+1840C>G
ENST00000556880.6:n.663C>G
ENST00000682247.1:c.639C>G	ENSP00000507213.1:p.Tyr213Ter
ENST00000682377.1:c.219C>G	ENSP00000507494.1:p.Tyr73Ter
ENST00000682382.1:c.495+1840C>G
ENST00000682395.1:n.368C>G
ENST00000682459.1:n.303C>G
ENST00000682467.1:c.639C>G	ENSP00000508062.1:p.Tyr213Ter
ENST00000682795.1:c.639C>G	ENSP00000507574.1:p.Tyr213Ter
ENST00000682895.1:n.355C>G
ENST00000682955.1:n.211+1840C>G
ENST00000683188.1:c.342+1840C>G
ENST00000683300.1:c.109+1840C>G	ENSP00000507630.1:n.109+1840C>G
ENST00000683328.1:c.109+1840C>G	ENSP00000508096.1:n.109+1840C>G
ENST00000683380.1:n.303C>G
ENST00000683551.1:c.92C>G
ENST00000683828.1:c.508C>G
ENST00000684259.1:n.490C>G
ENST00000684549.1:n.367+1840C>G
ENST00000261534.9:c.639C>G MANE Select	ENSP00000261534.4:p.Tyr213Ter
ENST00000261534.8:c.639C>G	ENSP00000261534.4:p.Tyr213Ter
ENST00000452340.7:n.662C>G
ENST00000553863.5:n.303C>G
ENST00000554948.1:c.366C>G	ENSP00000452060.1:p.Tyr122Ter
ENST00000555675.5:n.355C>G
ENST00000556326.5:c.*305C>G	ENSP00000450630.1:n.*305C>G
ENST00000556880.5:n.663C>G
ENST00000557289.1:c.55+1840C>G	ENSP00000451115.1:n.55+1840C>G
NM_013382.5:c.639C>G , LRG_844t1:c.639C>G	NP_037514.2:p.Tyr213Ter
XM_011536675.1:c.639C>G	XP_011534977.1:p.Tyr213Ter
XM_011536676.1:c.306C>G	XP_011534978.1:p.Tyr102Ter
XM_011536677.1:c.547+1840C>G	XP_011534979.1:n.547+1840C>G
XM_011536678.1:c.639C>G	XP_011534980.1:p.Tyr213Ter
XM_011536679.1:c.-91+1840C>G	XP_011534981.1:n.-91+1840C>G
XM_011536680.1:c.639C>G	XP_011534982.1:p.Tyr213Ter
XR_943416.1:n.842C>G
XM_011536675.2:c.639C>G	XP_011534977.1:p.Tyr213Ter
XM_011536676.2:c.306C>G	XP_011534978.1:p.Tyr102Ter
XM_011536677.3:c.547+1840C>G	XP_011534979.1:n.547+1840C>G
XR_001750279.1:n.839C>G
XR_001750282.1:n.843C>G
XR_943416.3:n.840C>G
NM_013382.6:c.639C>G	NP_037514.2:p.Tyr213Ter
NM_013382.7:c.639C>G MANE Select	NP_037514.2:p.Tyr213Ter