Canonical Allele Identifier: CA263818969

Gene: POMT2

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77280068A>G , CM000676.2:g.77280068A>G	GRCh38
NC_000014.8:g.77746411A>G , CM000676.1:g.77746411A>G	GRCh37
NC_000014.7:g.76816164A>G	NCBI36
NG_008897.1:g.45815T>C , LRG_844:g.45815T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_013382.7:c.1738T>C MANE Select	NP_037514.2:p.Ser580Pro
ENST00000261534.9:c.1738T>C MANE Select	ENSP00000261534.4:p.Ser580Pro
NM_013382.5:c.1738T>C , LRG_844t1:c.1738T>C	NP_037514.2:p.Ser580Pro
NM_013382.6:c.1738T>C	NP_037514.2:p.Ser580Pro
ENST00000261534.8:c.1738T>C	ENSP00000261534.4:p.Ser580Pro
ENST00000452340.7:n.1761T>C
ENST00000554767.5:n.2524T>C
ENST00000555134.1:n.377T>C
ENST00000555134.2:n.377T>C
ENST00000555710.1:c.7T>C	ENSP00000451730.1:p.Ser3Pro
ENST00000556171.1:c.141T>C
ENST00000556394.2:c.1279T>C	ENSP00000451967.2:p.Ser427Pro
ENST00000682247.1:c.1738T>C	ENSP00000507213.1:p.Ser580Pro
ENST00000682382.1:c.2386T>C
ENST00000682395.1:n.1916T>C
ENST00000682459.1:n.1441T>C
ENST00000682467.1:c.1738T>C	ENSP00000508062.1:p.Ser580Pro
ENST00000682560.1:c.314T>C	ENSP00000507033.1:n.314T>C
ENST00000682795.1:c.1738T>C	ENSP00000507574.1:p.Ser580Pro
ENST00000682895.1:n.1454T>C
ENST00000682925.1:c.228T>C
ENST00000682955.1:n.1026T>C
ENST00000682973.1:c.73-140T>C	ENSP00000508268.1:n.73-140T>C
ENST00000683095.1:c.144T>C	ENSP00000508040.1:p.Ser48=
ENST00000683188.1:c.1713T>C
ENST00000683380.1:n.1402T>C
ENST00000683828.1:c.1447T>C
ENST00000684172.1:c.114T>C	ENSP00000508391.1:p.Ser38=
ENST00000684259.1:n.2552T>C
ENST00000684538.1:n.164T>C
ENST00000684549.1:n.1289T>C
XM_011536675.1:c.1738T>C	XP_011534977.1:p.Ser580Pro
XM_011536675.2:c.1738T>C	XP_011534977.1:p.Ser580Pro
XM_011536676.1:c.1405T>C	XP_011534978.1:p.Ser469Pro
XM_011536676.2:c.1405T>C	XP_011534978.1:p.Ser469Pro
XM_011536677.1:c.1279T>C	XP_011534979.1:p.Ser427Pro
XM_011536677.3:c.1279T>C	XP_011534979.1:p.Ser427Pro
XM_011536678.1:c.1738T>C	XP_011534980.1:p.Ser580Pro
XM_011536679.1:c.832T>C	XP_011534981.1:p.Ser278Pro
XR_001750279.1:n.1938T>C
XR_001750282.1:n.2391T>C
XR_943416.1:n.1941T>C
XR_943416.3:n.1939T>C