Canonical Allele Identifier: CA338949438

Gene: HSPG2

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.21861756C>G , CM000663.2:g.21861756C>G	GRCh38
NC_000001.10:g.22188249C>G , CM000663.1:g.22188249C>G	GRCh37
NC_000001.9:g.22060836C>G	NCBI36
NG_016740.1:g.80502G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_005529.7:c.4955+1G>C MANE Select	NP_005520.4:n.4955+1G>C
ENST00000374695.8:c.4955+1G>C MANE Select	ENSP00000363827.3:n.4955+1G>C
NM_001291860.1:c.4958+1G>C	NP_001278789.1:n.4958+1G>C
NM_001291860.2:c.4958+1G>C	NP_001278789.1:n.4958+1G>C
NM_005529.6:c.4955+1G>C	NP_005520.4:n.4955+1G>C
ENST00000374695.7:c.4955+1G>C	ENSP00000363827.3:n.4955+1G>C
XM_006710594.2:c.5501+1G>C	XP_006710657.1:n.5501+1G>C
XM_006710595.2:c.5453+1G>C	XP_006710658.1:n.5453+1G>C
XM_006710596.2:c.5432+1G>C	XP_006710659.1:n.5432+1G>C
XM_006710597.2:c.4955+1G>C	XP_006710660.1:n.4955+1G>C
XM_011541317.1:c.5504+1G>C	XP_011539619.1:n.5504+1G>C
XM_011541318.1:c.5504+1G>C	XP_011539620.1:n.5504+1G>C
XM_011541318.2:c.5504+1G>C	XP_011539620.1:n.5504+1G>C
XM_011541319.1:c.5504+1G>C	XP_011539621.1:n.5504+1G>C
XM_011541320.1:c.5504+1G>C	XP_011539622.1:n.5504+1G>C
XM_011541321.1:c.5009+1G>C	XP_011539623.1:n.5009+1G>C
XM_011541322.1:c.5504+1G>C	XP_011539624.1:n.5504+1G>C
XM_017001120.1:c.5150+1G>C	XP_016856609.1:n.5150+1G>C
XM_017001121.1:c.5099+1G>C	XP_016856610.1:n.5099+1G>C
XM_017001122.1:c.5096+1G>C	XP_016856611.1:n.5096+1G>C