Canonical Allele Identifier: CA2639301561

Gene: SMARCD2

Linked Data

• gnomAD v4: 17-63837400-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63837400G>C , CM000679.2:g.63837400G>C	GRCh38
NC_000017.10:g.61914760G>C , CM000679.1:g.61914760G>C	GRCh37
NC_000017.9:g.59268492G>C	NCBI36
NG_053004.1:g.10592C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000697953.1:n.330C>G
ENST00000698015.1:n.35+41C>G
ENST00000698016.1:c.260+41C>G	ENSP00000513502.1:n.260+41C>G
ENST00000698020.1:n.28C>G
ENST00000698021.1:c.64+41C>G
ENST00000698022.1:c.218+41C>G	ENSP00000513504.1:n.218+41C>G
ENST00000698027.1:c.260+41C>G	ENSP00000513505.1:n.260+41C>G
ENST00000448276.7:c.401+41C>G MANE Select	ENSP00000392617.2:n.401+41C>G
ENST00000225742.13:c.176+41C>G	ENSP00000225742.9:n.176+41C>G
ENST00000323347.14:c.257+41C>G	ENSP00000318451.10:n.257+41C>G
ENST00000448276.6:c.401+41C>G	ENSP00000392617.2:n.401+41C>G
ENST00000577686.1:n.53-163C>G
ENST00000580054.1:c.185+41C>G	ENSP00000463793.1:n.185+41C>G
ENST00000584400.5:c.217-163C>G	ENSP00000464503.1:n.217-163C>G
ENST00000613943.4:c.290+41C>G	ENSP00000483605.1:n.290+41C>G
NM_001098426.1:c.401+41C>G	NP_001091896.1:n.401+41C>G
XM_005257604.2:c.176+41C>G	XP_005257661.2:n.176+41C>G
NM_001330439.1:c.176+41C>G	NP_001317368.1:n.176+41C>G
NM_001330440.1:c.257+41C>G	NP_001317369.1:n.257+41C>G
NM_001098426.2:c.401+41C>G MANE Select	NP_001091896.1:n.401+41C>G
NM_001330440.2:c.257+41C>G	NP_001317369.1:n.257+41C>G