Canonical Allele Identifier: CA375219645

Gene: HMCN2

Linked Data

• dbSNP Id: rs1418201511
• gnomAD v2: 9-133308868-G-T
• gnomAD v4: 9-130433481-G-T
• MyVariant Identifiers: chr9:g.133308868G>T (hg19) ; chr9:g.130433481G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433481G>T , CM000671.2:g.130433481G>T	GRCh38
NC_000009.11:g.133308868G>T , CM000671.1:g.133308868G>T	GRCh37
NC_000009.10:g.132298689G>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14971G>T	ENSP00000485357.2:p.Gly4991Cys
ENST00000683500.2:c.15028G>T MANE Select	ENSP00000508292.2:p.Gly5010Cys
ENST00000623487.1:n.3374G>T
ENST00000624552.3:c.14968G>T	ENSP00000485357.1:p.Gly4990Cys
NM_001291815.1:c.15028G>T	NP_001278744.1:p.Gly5010Cys
XM_011518465.1:c.14905G>T	XP_011516767.1:p.Gly4969Cys
XM_011518466.1:c.14896G>T	XP_011516768.1:p.Gly4966Cys
XM_011518467.1:c.14851G>T	XP_011516769.1:p.Gly4951Cys
NM_001291815.2:c.15028G>T MANE Select	NP_001278744.1:p.Gly5010Cys
XM_011518465.2:c.14905G>T	XP_011516767.1:p.Gly4969Cys
XM_011518466.2:c.14896G>T	XP_011516768.1:p.Gly4966Cys
XM_011518467.2:c.14851G>T	XP_011516769.1:p.Gly4951Cys
XM_017014585.1:c.11809G>T	XP_016870074.1:p.Gly3937Cys
XM_017014586.1:c.7606G>T	XP_016870075.1:p.Gly2536Cys
XR_001746957.1:n.92+140C>A
XR_001746958.1:n.92+140C>A