Canonical Allele Identifier: CA390514033

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77745153A>C (hg19) ; chr14:g.77278810A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278810A>C , CM000676.2:g.77278810A>C	GRCh38
NC_000014.8:g.77745153A>C , CM000676.1:g.77745153A>C	GRCh37
NC_000014.7:g.76814906A>C	NCBI36
NG_008897.1:g.47073T>G , LRG_844:g.47073T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.876T>G
ENST00000556394.2:c.1492T>G	ENSP00000451967.2:p.Tyr498Asp
ENST00000682128.1:c.252T>G	ENSP00000506976.1:n.252T>G
ENST00000682247.1:c.1940T>G	ENSP00000507213.1:p.Leu647Ter
ENST00000682395.1:n.2415T>G
ENST00000682459.1:n.1654T>G
ENST00000682467.1:c.1892-302T>G	ENSP00000508062.1:n.1892-302T>G
ENST00000682615.1:n.305T>G
ENST00000682795.1:c.2098T>G	ENSP00000507574.1:p.Tyr700Asp
ENST00000682895.1:n.1667T>G
ENST00000682955.1:n.1525T>G
ENST00000683095.1:c.357T>G	ENSP00000508040.1:n.357T>G
ENST00000683188.1:c.2212T>G
ENST00000683380.1:n.1615T>G
ENST00000683828.1:c.1660T>G
ENST00000683907.1:c.216T>G	ENSP00000507754.1:p.Ile72Met
ENST00000684172.1:c.327T>G	ENSP00000508391.1:n.327T>G
ENST00000684259.1:n.3718T>G
ENST00000684538.1:n.1330T>G
ENST00000684549.1:n.1502T>G
ENST00000261534.9:c.1951T>G MANE Select	ENSP00000261534.4:p.Tyr651Asp
ENST00000261534.8:c.1951T>G	ENSP00000261534.4:p.Tyr651Asp
ENST00000452340.7:n.2927T>G
ENST00000554767.5:n.2737T>G
ENST00000555710.1:c.312T>G	ENSP00000451730.1:n.312T>G
ENST00000556171.1:c.543T>G
ENST00000556394.1:c.88-302T>G
ENST00000556446.1:n.252T>G
ENST00000602717.5:c.166T>G	ENSP00000487704.1:p.Tyr56Asp
NM_013382.5:c.1951T>G , LRG_844t1:c.1951T>G	NP_037514.2:p.Tyr651Asp
XM_011536675.1:c.2140T>G	XP_011534977.1:p.Tyr714Asp
XM_011536676.1:c.1807T>G	XP_011534978.1:p.Tyr603Asp
XM_011536677.1:c.1681T>G	XP_011534979.1:p.Tyr561Asp
XM_011536679.1:c.1234T>G	XP_011534981.1:p.Tyr412Asp
XR_943416.1:n.2204T>G
XM_011536675.2:c.2140T>G	XP_011534977.1:p.Tyr714Asp
XM_011536676.2:c.1807T>G	XP_011534978.1:p.Tyr603Asp
XM_011536677.3:c.1681T>G	XP_011534979.1:p.Tyr561Asp
XR_001750279.1:n.2237T>G
XR_001750282.1:n.2890T>G
XR_943416.3:n.2202T>G
NM_013382.6:c.1951T>G	NP_037514.2:p.Tyr651Asp
NM_013382.7:c.1951T>G MANE Select	NP_037514.2:p.Tyr651Asp