Canonical Allele Identifier: CA375219424

Gene: HMCN2

Linked Data

• gnomAD v4: 9-130433422-T-C
• MyVariant Identifiers: chr9:g.133308809T>C (hg19) ; chr9:g.130433422T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.130433422T>C , CM000671.2:g.130433422T>C	GRCh38
NC_000009.11:g.133308809T>C , CM000671.1:g.133308809T>C	GRCh37
NC_000009.10:g.132298630T>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000624552.4:c.14912T>C	ENSP00000485357.2:p.Leu4971Pro
ENST00000683500.2:c.14969T>C MANE Select	ENSP00000508292.2:p.Leu4990Pro
ENST00000623487.1:n.3315T>C
ENST00000624552.3:c.14909T>C	ENSP00000485357.1:p.Leu4970Pro
NM_001291815.1:c.14969T>C	NP_001278744.1:p.Leu4990Pro
XM_011518465.1:c.14846T>C	XP_011516767.1:p.Leu4949Pro
XM_011518466.1:c.14837T>C	XP_011516768.1:p.Leu4946Pro
XM_011518467.1:c.14792T>C	XP_011516769.1:p.Leu4931Pro
NM_001291815.2:c.14969T>C MANE Select	NP_001278744.1:p.Leu4990Pro
XM_011518465.2:c.14846T>C	XP_011516767.1:p.Leu4949Pro
XM_011518466.2:c.14837T>C	XP_011516768.1:p.Leu4946Pro
XM_011518467.2:c.14792T>C	XP_011516769.1:p.Leu4931Pro
XM_017014585.1:c.11750T>C	XP_016870074.1:p.Leu3917Pro
XM_017014586.1:c.7547T>C	XP_016870075.1:p.Leu2516Pro
XR_001746957.1:n.92+199A>G
XR_001746958.1:n.92+199A>G